Canonical Allele Identifier: PA2830150634
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1363424
ClinVar RCV Id: RCV002252713 RCV001934892 RCV003375384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly2567Ser
CA2187576
NM_057167.4:c.7699G>A