Canonical Allele Identifier: PA2825588138
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378800
ClinVar RCV Id: RCV001914690

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Ile271Asn
CA380962133
NM_001122955.4:c.812T>A