Canonical Allele Identifier: PA2830145491
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285984
ClinVar RCV Id: RCV000725760 RCV000801843 RCV002519202
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala704Thr
CA2189184
NM_057164.5:c.2110G>A