Canonical Allele Identifier: PA2825588119
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1045204
ClinVar RCV Id: RCV001349573

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Tyr248His
CA380962606
NM_001122955.4:c.742T>C