ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580477431
Gene: POMK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1899455
ClinVar RCV Id:
RCV002582748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115613.1:p.Leu129Phe
CA4736279
NM_032237.5:c.385C>T