Canonical Allele Identifier: PA2830147199
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289573
ClinVar RCV Id: RCV000370349 RCV001068738
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg645His
CA2189081
NM_057166.5:c.1934G>A