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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:
CA1870932963
Gene:
Linked Data
dbSNP Id:
rs1826974569
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.108092837_108092838insGA , CM000671.2:g.108092837_108092838insGA
GRCh38
NC_000009.11:g.110855118_110855119insGA , CM000671.1:g.110855118_110855119insGA
GRCh37
NC_000009.10:g.109894939_109894940insGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930239.1:n.461-39544_461-39543insTC
XR_001746881.1:n.668-39544_668-39543insTC
XR_001746882.1:n.668-39544_668-39543insTC
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