Canonical Allele Identifier: PA2580501681
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717871
ClinVar RCV Id: RCV002297866

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly661Asp
CA410539572
NM_058175.3:c.1982G>A