Allele Registry

Canonical Allele Identifier: PA2573078520

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000116504

RCV000174173

RCV000300263

RCV000357438

RCV000664139

RCV001082147

RCV001847675

RCV002426660

RCV002498501

ClinVar Variation:

128532

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001372956.1:p.Leu429Pro	CA200862 NM_001386027.1:c.1286T>C