Canonical Allele Identifier: PA147455
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93929

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg680His
CA147453
NM_001849.4:c.2039G>A