Canonical Allele Identifier: PA2825698574
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769343
ClinVar RCV Id: RCV002380781

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Asp4Glu
CA380970817
NM_001130702.2:c.12C>G
CA380970818
NM_001130702.2:c.12C>A