Canonical Allele Identifier: PA2829061334
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769343
ClinVar RCV Id: RCV002380781

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.Asp68Glu
CA380970817
NM_001386027.1:c.204C>G
CA380970818
NM_001386027.1:c.204C>A