Canonical Allele Identifier: PA645434708
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340389
ClinVar RCV Id: RCV000276274 RCV000368594 RCV000597101 RCV002057780
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp1012Asn
CA10073149
NM_001849.4:c.3034G>A