ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830325673
Gene: NMNAT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520701
ClinVar RCV Id:
RCV004025263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733820.1:p.Arg227Gln
CA1283363
NM_170706.4:c.680G>A