ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107375
Gene: MVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000422.1:p.Pro167Leu
NM_000431.4:c.499_500delinsTT
NM_000431.4:c.500C>T