ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828512240
Gene: NEK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361350.1:p.Tyr229Cys
CA3137975
NM_001374421.1:c.686A>G