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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:
CA2755143531
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.8209100_8209103del , CM000665.2:g.8209100_8209103del
GRCh38
NC_000003.11:g.8250787_8250790del , CM000665.1:g.8250787_8250790del
GRCh37
NC_000003.10:g.8225787_8225790del
NCBI36
Search 100 bp 5'
Search 100 bp 3'