ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828512252
Gene: NEK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199125
ClinVar RCV Id:
RCV000180637
RCV000492285
RCV000659006
RCV001086419
RCV003917685
RCV002287889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361350.1:p.Arg261His
CA203762
NM_001374421.1:c.782G>A