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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
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Canonical Allele Identifier:
CA1870932941
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.108092815_108092817delinsCAT , CM000671.2:g.108092815_108092817delinsCAT
GRCh38
NC_000009.11:g.110855096_110855098delinsCAT , CM000671.1:g.110855096_110855098delinsCAT
GRCh37
NC_000009.10:g.109894917_109894919delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930239.1:n.461-39523_461-39521delinsATG
XR_001746881.1:n.668-39523_668-39521delinsATG
XR_001746882.1:n.668-39523_668-39521delinsATG
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