Allele Registry

Canonical Allele Identifier: PA2828473238

Gene: BCS1L HGNC NCBI

ClinVar RCV:

RCV001950093

RCV002479473

ClinVar Variation:

1429458

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361015.1:p.Arg18Gln	CA322292 NM_001374086.1:c.53G>A