ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826866570
Gene: MVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288111.1:p.Arg273His
CA6779425
NM_001301182.1:c.818G>A