ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072951
Gene: NEK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361347.1:p.Val713Met
CA3137507
NM_001374418.1:c.2137G>A