Canonical Allele Identifier: PA2830145422
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285594
ClinVar RCV Id: RCV000324975 RCV000697460 RCV000725699 RCV001535515
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Val633Ile
CA2189239
NM_057164.5:c.1897G>A