Allele Registry

Canonical Allele Identifier: PA2825588068

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000536990

RCV000789082

RCV001270682

RCV002284966

RCV003311850

ClinVar Variation:

476810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116427.1:p.Ser154Trp	CA380968385 NM_001122955.4:c.461C>G