Canonical Allele Identifier: PA645434642
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289754
ClinVar RCV Id: RCV000311292 RCV002518099 RCV000800095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu999Lys
CA10073130
NM_001849.4:c.2995G>A