ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241951
Gene: NEK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186329.1:p.Thr993Ala
CA3137222
NM_001199400.3:c.2977A>G