Canonical Allele Identifier: PA2830151900
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476493
ClinVar RCV Id: RCV000533493

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly271Val
CA410524658
NM_058174.3:c.812G>T