Canonical Allele Identifier: PA2829061513
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305177
ClinVar RCV Id: RCV000301053 RCV000401336 RCV000431177 RCV000518650 RCV001083807 RCV001174402 RCV003940156 RCV002365351
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.Ala282Val
CA6053437
NM_001386027.1:c.845C>T