Canonical Allele Identifier: PA916054524
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29640

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu624Lys
CA259612
NM_058175.3:c.1870G>A