Canonical Allele Identifier: PA2830146128
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_476506.3:p.Ala563Val
CA2189430
NM_057165.5:c.1688C>T