Canonical Allele Identifier: PA645434458
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340383
ClinVar RCV Id: RCV000337382 RCV000392176 RCV000653558 RCV003144236
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg930Cys
CA10653091
NM_001849.4:c.2788C>T