ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003462
Gene: NEK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186329.1:p.Ser975Leu
CA3137229
NM_001199400.3:c.2924C>T