ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580539035
Gene: NEK8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_835464.1:p.Ala439Val
CA8467400
NM_178170.3:c.1316C>T