Canonical Allele Identifier: PA2830150158
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451229
ClinVar RCV Id: RCV000812792 RCV000728295 RCV004553145
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1945Leu
CA2188286
NM_057167.4:c.5833G>C