Canonical Allele Identifier: PA2830152371
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598977

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr670Ala
CA10072408
NM_058174.3:c.2008A>G