Canonical Allele Identifier: PA645433683
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340380
ClinVar RCV Id: RCV000281777 RCV000320418 RCV000593147 RCV000794426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val859Met
CA10072931
NM_001849.4:c.2575G>A