Canonical Allele Identifier: PA2830152398
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 970111
ClinVar RCV Id: RCV001245625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Lys692del
CA1139666904
NM_058174.3:c.2076_2078del