Canonical Allele Identifier: PA2825588022
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246509
ClinVar RCV Id: RCV000235352 RCV000543721 RCV002418047 RCV002479947 RCV003930012
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Cys100Phe
CA6053624
NM_001122955.4:c.299G>T