Allele Registry

Canonical Allele Identifier: PA2828472774

Gene: BCS1L HGNC NCBI

ClinVar RCV:

RCV000199842

RCV003226245

RCV003474949

ClinVar Variation:

214166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361014.1:p.Arg109Trp	CA324385 NM_001374085.1:c.325C>T