Allele Registry

Canonical Allele Identifier: PA205519

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000192598

RCV000766869

RCV001083233

RCV001174400

RCV002433863

RCV002467651

RCV003884385

ClinVar Variation:

210545

HGVS (amino-acid)	Matching Registered Transcripts
NP_116056.3:p.Ser280Phe	CA205518 NM_032667.6:c.839C>T