Allele Registry

Canonical Allele Identifier: PA658679875

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000536990

RCV000789082

RCV001270682

RCV002284966

RCV003311850

ClinVar Variation:

476810

HGVS (amino-acid)	Matching Registered Transcripts
NP_116056.3:p.Ser90Trp	CA380968385 NM_032667.6:c.269C>G