Allele Registry

Canonical Allele Identifier: PA239677

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000445495

RCV000724332

RCV001086117

RCV001847805

RCV002326952

RCV003884374

ClinVar Variation:

193938

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116427.1:p.Arg456His	CA239675 NM_001122955.4:c.1367G>A