Canonical Allele Identifier: PA2830149108
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198168
ClinVar RCV Id: RCV000179436 RCV000653600
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro609His
CA246680
NM_057167.4:c.1826C>A