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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:
CA2527271921
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.81524187_81524189del , CM000673.2:g.81524187_81524189del
GRCh38
NC_000011.9:g.81235229_81235231del , CM000673.1:g.81235229_81235231del
GRCh37
NC_000011.8:g.80912877_80912879del
NCBI36
Search 100 bp 5'
Search 100 bp 3'