Canonical Allele Identifier: PA2830145208
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499099
ClinVar RCV Id: RCV000597561 RCV000653557 RCV002224968 RCV003483687
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala362Val
CA2189430
NM_057164.5:c.1085C>T