Canonical Allele Identifier: PA645433094
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340362

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr207Arg
CA10071351
NM_001849.4:c.620C>G