Canonical Allele Identifier: PA916054229
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 570492
ClinVar RCV Id: RCV000691353
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly280Asp
CA410524811
NM_058175.3:c.839G>A