Canonical Allele Identifier: PA2830152531
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286579
ClinVar RCV Id: RCV000367936 RCV000557776
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ala776Thr
CA10072520
NM_058174.3:c.2326G>A