Canonical Allele Identifier: PA2825698805
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2510841
ClinVar RCV Id: RCV003240265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Ser191Leu
CA6053482
NM_001130702.2:c.572C>T