Canonical Allele Identifier: PA2830148740
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281848
ClinVar RCV Id: RCV000316225 RCV000526526
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val168Met
CA2189701
NM_057167.4:c.502G>A