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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:
CA630310799
Gene:
Linked Data
dbSNP Id:
rs1432959603
gnomAD v2:
18-58040326-T-TA
gnomAD v3:
18-60373093-T-TA
gnomAD v4:
18-60373093-T-TA
MyVariant Identifiers:
chr18:g.58040326_58040327insA (hg19)
chr18:g.60373093_60373094insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373093_60373094insA , CM000680.2:g.60373093_60373094insA
GRCh38
NC_000018.9:g.58040326_58040327insA , CM000680.1:g.58040326_58040327insA
GRCh37
NC_000018.8:g.56191306_56191307insA
NCBI36
NG_016441.1:g.4675_4676insT
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