Canonical Allele Identifier: PA2825698852
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 952139
ClinVar RCV Id: RCV001224190 RCV002261311
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Arg215Cys
CA6053441
NM_001130702.2:c.643C>T