ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829670192
Gene: PMVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006547.1:p.Val125Met
CA1132498
NM_006556.4:c.373G>A