Canonical Allele Identifier: PA916054113
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290662
ClinVar RCV Id: RCV000334369 RCV000810817
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu182Gly
CA10071333
NM_058175.3:c.545A>G