ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093350
Gene: NMNAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
448406
ClinVar RCV:
RCV000538650
ClinVar Variation:
464670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284707.1:p.Leu239Ser
CA579318
NM_001297778.1:c.716T>C