Allele Registry

Canonical Allele Identifier: PA2573078601

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000192598

RCV000766869

RCV001083233

RCV001174400

RCV002433863

RCV002467651

RCV003884385

ClinVar Variation:

210545

HGVS (amino-acid)	Matching Registered Transcripts
NP_001372957.1:p.Ser344Phe	CA205518 NM_001386028.1:c.1031C>T