Canonical Allele Identifier: PA915973093
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 220174
ClinVar RCV Id: RCV000205813 RCV002444827 RCV003441784 RCV003448287
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Glu239Lys
CA349931
NM_001130702.2:c.715G>A