Canonical Allele Identifier: PA645433321
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282182
ClinVar RCV Id: RCV000388801 RCV000653599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly499Glu
CA10604094
NM_001849.4:c.1496G>A