Canonical Allele Identifier: PA658676863
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476528
ClinVar RCV Id: RCV000530753 RCV002274066
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr1581Arg
CA351192223
NM_004369.4:c.4742C>G