Canonical Allele Identifier: PA2830145327
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288629
ClinVar RCV Id: RCV000332055 RCV000407262 RCV001209515 RCV002518047
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala512Val
CA2189328
NM_057164.5:c.1535C>T