Canonical Allele Identifier: PA2825588003
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3234754
ClinVar RCV Id: RCV004547102

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Met65Ile
CA380970837
NM_001122955.4:c.195G>T
CA380970838
NM_001122955.4:c.195G>C
CA380970839
NM_001122955.4:c.195G>A