Canonical Allele Identifier: PA2829328636
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2269596
ClinVar RCV Id: RCV002799435

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Cys607Tyr
CA410538362
NM_001849.4:c.1820G>A