Canonical Allele Identifier: PA147908
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94904
ClinVar RCV Id: RCV000080909 RCV000373285 RCV000544484 RCV002295281 RCV004549506
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val422Met
CA147906
NM_004369.4:c.1264G>A