Canonical Allele Identifier: PA891851603
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 570492
ClinVar RCV Id: RCV000691353

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly280Asp
CA410524811
NM_001849.4:c.839G>A