Canonical Allele Identifier: PA2830152304
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068596
ClinVar RCV Id: RCV003994665
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser622Ile
CA410538533
NM_058174.3:c.1865G>T