Allele Registry

Canonical Allele Identifier: PA2828489590

Gene: BCS1L HGNC NCBI

ClinVar RCV:

RCV000432529

RCV001329213

RCV002285017

ClinVar Variation:

381524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358379.1:p.Gly129Arg	CA16604118 NM_001371450.1:c.385G>A CA350626484 NM_001371450.1:c.385G>C