Canonical Allele Identifier: PA1139756915
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 970111
ClinVar RCV Id: RCV001245625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Lys692del
CA1139666904
NM_058175.3:c.2076_2078del