Canonical Allele Identifier: PA2825698844
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305178
ClinVar RCV Id: RCV000335926 RCV000399378 RCV000866662 RCV001089069 RCV002365352
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Gly211Arg
CA6053444
NM_001130702.2:c.631G>A
CA380962073
NM_001130702.2:c.631G>C