Canonical Allele Identifier: PA2830149524
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476523
ClinVar RCV Id: RCV000546203 RCV000727675 RCV000765643
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ile1231Phe
CA2188918
NM_057167.4:c.3691A>T