Canonical Allele Identifier: PA645433133
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286150
ClinVar RCV Id: RCV000389013 RCV000725795
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly280Arg
CA10605378
NM_001849.4:c.838G>C