Canonical Allele Identifier: PA200151
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 192264
ClinVar RCV Id: RCV000172852 RCV000389218 RCV001372713
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg2501His
CA200149
NM_004369.4:c.7502G>A