Allele Registry

Canonical Allele Identifier: PA2826440176

Gene: BCS1L HGNC NCBI

ClinVar RCV:

RCV000006545

RCV000779835

RCV001835622

RCV002243624

RCV002476937

RCV002512833

ClinVar Variation:

6170

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244271.1:p.Arg183His	CA118021 NM_001257342.2:c.548G>A