Canonical Allele Identifier: PA2829328658
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 964979

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val616Met
CA410538469
NM_001849.4:c.1846G>A