Canonical Allele Identifier: PA658676958
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476541
ClinVar RCV Id: RCV000537596 RCV001591299
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly1957Arg
CA2188547
NM_004369.4:c.5869G>A
CA351219863
NM_004369.4:c.5869G>C