Canonical Allele Identifier: PA2829328857
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 970111
ClinVar RCV Id: RCV001245625

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Lys692del
CA1139666904
NM_001849.4:c.2076_2078del