Canonical Allele Identifier: PA2830148321
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197034
ClinVar RCV Id: RCV000177942 RCV000254307 RCV000270502 RCV001081264 RCV002226459
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2123Asp
CA244931
NM_057166.5:c.6368C>A