ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093228
Gene: NMNAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37138
ClinVar RCV Id:
RCV000030769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284707.1:p.Arg237Leu
CA260596
NM_001297778.1:c.710G>T