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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:
CA1320446127
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033129_200033130delinsTG , CM000664.2:g.200033129_200033130delinsTG
GRCh38
NC_000002.11:g.200897852_200897853delinsTG , CM000664.1:g.200897852_200897853delinsTG
GRCh37
NC_000002.10:g.200606097_200606098delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923778.1:n.178-22234_178-22233delinsCA
Search 100 bp 5'
Search 100 bp 3'