ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112328
Gene: NFU1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002755.1:p.Gly208Cys
CA129406
NM_001002755.4:c.622G>T