ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499289431
Gene: NMNAT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001344745
ClinVar Variation:
1041004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073624.2:p.Pro62Thr
CA579176
NM_022787.4:c.184C>A