Canonical Allele Identifier: PA2830146395
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166945
ClinVar RCV Id: RCV000153097 RCV001087811
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg890His
CA233841
NM_057165.5:c.2669G>A