Canonical Allele Identifier: PA645386261
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411580
ClinVar RCV Id: RCV000460819 RCV002266964 RCV001836825 RCV002323748
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Ala452Ser
CA16613434
NM_001122955.4:c.1354G>T