Canonical Allele Identifier: PA2825698851
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2957028
ClinVar RCV Id: RCV003818715

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Arg215His
CA6053440
NM_001130702.2:c.644G>A