Allele Registry

Canonical Allele Identifier: PA2825698895

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000271246

RCV000328674

RCV000657059

RCV001001623

RCV001087807

RCV001847821

RCV002444724

ClinVar Variation:

199176

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124174.2:p.Arg256Cys	CA248240 NM_001130702.2:c.766C>T