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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:
CA2499956123
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92314605del , CM000676.2:g.92314605del
GRCh38
NC_000014.8:g.92780949del , CM000676.1:g.92780949del
GRCh37
NC_000014.7:g.91850702del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944153.1:n.132-641del
Search 100 bp 5'
Search 100 bp 3'