Canonical Allele Identifier: PA2830152309
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29640

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu624Lys
CA259612
NM_058174.3:c.1870G>A