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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA529297688
Gene:
Linked Data
dbSNP Id:
rs1483236875
gnomAD v2:
1-220664982-T-TTGGCCACAGTGGTG
gnomAD v3:
1-220491640-T-TTGGCCACAGTGGTG
gnomAD v4:
1-220491640-T-TTGGCCACAGTGGTG
MyVariant Identifiers:
chr1:g.220664982_220664983insTGGCCACAGTGGTG (hg19)
chr1:g.220491640_220491641insTGGCCACAGTGGTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220491640_220491641insTGGCCACAGTGGTG , CM000663.2:g.220491640_220491641insTGGCCACAGTGGTG
GRCh38
NC_000001.10:g.220664982_220664983insTGGCCACAGTGGTG , CM000663.1:g.220664982_220664983insTGGCCACAGTGGTG
GRCh37
NC_000001.9:g.218731605_218731606insTGGCCACAGTGGTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922615.1:n.256-594_256-593insTGGCCACAGTGGTG
XR_001737822.1:n.557-594_557-593insTGGCCACAGTGGTG
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