ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437143
Gene: NEK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000321359
RCV000492300
RCV003635907
ClinVar Variation:
266048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186326.1:p.Phe597Ile
CA3137633
NM_001199397.1:c.1789T>A