Canonical Allele Identifier: PA2573308418
Gene: NEK8 HGNC NCBI
ClinVar RCV:
RCV002152957
ClinVar Variation:
1610138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_835464.1:p.Leu129Phe
CA8467073
NM_178170.3:c.385C>T