Canonical Allele Identifier: PA2830152390
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715186
ClinVar RCV Id: RCV002299458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser683Pro
CA410541325
NM_058174.3:c.2047T>C