Canonical Allele Identifier: PA2830148077
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476553
ClinVar RCV Id: RCV000532702 RCV002223227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1812Ala
CA351204205
NM_057166.5:c.5435G>C