ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830015589
Gene: NMNAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073624.2:p.Thr279_Ter280insGlnGluPheTyrSerMetIlePheGlnThrSerHisLeuGlyIle
CA260588
NM_022787.4:c.838T>C