Canonical Allele Identifier: PA2830150360
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94983
ClinVar RCV Id: RCV000282178 RCV000657932 RCV000987061 RCV002051806
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2214Trp
CA222652
NM_057167.4:c.6640C>T