Canonical Allele Identifier: PA658810886
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498007

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.His667Arg
CA410539694
NM_001849.4:c.2000A>G