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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:
CA552316573
Gene:
Linked Data
dbSNP Id:
rs1403941440
gnomAD v2:
4-75170058-A-AAT
gnomAD v3:
4-74304341-A-AAT
gnomAD v4:
4-74304341-A-AAT
MyVariant Identifiers:
chr4:g.75170058_75170059insAT (hg19)
chr4:g.74304341_74304342insAT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74304343_74304344dup , CM000666.2:g.74304343_74304344dup
GRCh38
NC_000004.11:g.75170060_75170061dup , CM000666.1:g.75170060_75170061dup
GRCh37
NC_000004.10:g.75388924_75388925dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938877.1:n.120-25565_120-25564dup
XR_938877.2:n.126-25565_126-25564dup
Search 100 bp 5'
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