Allele Registry

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.

Canonical Allele Identifier: PA916024073

Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 551244

ClinVar RCV Id: RCV000666246

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305765.1:p.Arg83_Val85del	CA539839958 NM_001318836.2:c.247_255del