Canonical Allele Identifier: PA645434639
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340387
ClinVar RCV Id: RCV000308256 RCV000365215 RCV000551844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val996Met
CA10073128
NM_001849.4:c.2986G>A