Canonical Allele Identifier: PA2830148704
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282269
ClinVar RCV Id: RCV000354532 RCV001224663
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg130Gln
CA2189728
NM_057167.4:c.389G>A