Canonical Allele Identifier: PA916054279
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 198473
ClinVar RCV Id: RCV000179831 RCV000179832
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly292Val
CA275394
NM_058175.3:c.875G>T