Canonical Allele Identifier: PA2825588222
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 245942
ClinVar RCV Id: RCV000235323 RCV000766613 RCV001055347 RCV002379048 RCV002500833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Glu390Lys
CA6053302
NM_001122955.4:c.1168G>A