Canonical Allele Identifier: PA2829328825
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951227
ClinVar RCV Id: RCV001223089

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu679Lys
CA10072421
NM_001849.4:c.2035G>A