ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828512418
Gene: NEK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
192988
ClinVar RCV:
RCV000176490
RCV002056950
ClinVar Variation:
195827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361350.1:p.Gln649Glu
CA242459
NM_001374421.1:c.1945C>G