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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:
CA2761271943
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.45362848_45362853del , CM000666.2:g.45362848_45362853del
GRCh38
NC_000004.11:g.45364865_45364870del , CM000666.1:g.45364865_45364870del
GRCh37
NC_000004.10:g.45059622_45059627del
NCBI36
Search 100 bp 5'
Search 100 bp 3'