ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829846144
Gene: NFU1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056515.2:p.Gly184Cys
CA129406
NM_015700.4:c.550G>T