Canonical Allele Identifier: PA2830152401
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598299
ClinVar RCV Id: RCV000734661 RCV001043033
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu695Gln
CA410541473
NM_058174.3:c.2083G>C