Canonical Allele Identifier: PA2830147061
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542997
ClinVar RCV Id: RCV000653588 RCV003144454 RCV004025911
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val485Ile
CA2189202
NM_057166.5:c.1453G>A