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: PA2828490068

Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6163

ClinVar RCV Id: RCV000006538

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358381.1:p.Ser110Asn	CA117984 NM_001371452.1:c.329G>A