Canonical Allele Identifier: PA645455423
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287817
ClinVar RCV Id: RCV000485229 RCV000396169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2071Asp
CA10605883
NM_004369.4:c.6212G>A