ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA149855
Gene: MVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000422.1:p.Val203Ala
NM_000431.4:c.608T>C