Canonical Allele Identifier: PA2830148159
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290462
ClinVar RCV Id: RCV000333171 RCV000696056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1898Arg
CA2187792
NM_057166.5:c.5692G>A
CA351202467
NM_057166.5:c.5692G>C