Canonical Allele Identifier: PA916054288
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521397
ClinVar RCV Id: RCV000624324 RCV002532835
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly301Asp
CA410525581
NM_058175.3:c.902G>A