ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106014
Gene: NEK8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_835464.1:p.Leu330Phe
CA8467261
NM_178170.3:c.988C>T