Canonical Allele Identifier: PA2830152285
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 896443
ClinVar RCV Id: RCV001139089 RCV001324206 RCV001560752
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg610His
CA10072304
NM_058174.3:c.1829G>A