Canonical Allele Identifier: PA2830015589
Gene: NMNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37132
ClinVar RCV Id: RCV000030763
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_073624.2:p.Thr279_Ter280insGlnGluPheTyrSerMetIlePheGlnThrSerHisLeuGlyIle
CA260588
NM_022787.4:c.838T>C