ClinGen Allele Registry
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Canonical Allele Identifier:
PA093209
Gene: NMNAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
45794
ClinVar RCV:
RCV000030764
RCV001090803
ClinVar Variation:
37133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284707.1:p.Arg207Trp
CA260590
NM_001297778.1:c.619C>T