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: PA097266

Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6174

ClinVar RCV Id: RCV000006550 RCV000521027 RCV000674245 RCV003472991

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073335.1:p.Arg183Cys	CA118041 NM_001079866.2:c.547C>T