Canonical Allele Identifier: PA2830148521
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500213
ClinVar RCV Id: RCV000596369 RCV001234893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2368Val
CA2187412
NM_057166.5:c.7103C>T