ClinGen Allele Registry
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Canonical Allele Identifier:
PA260591
Gene: NMNAT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_073624.2:p.Arg207Trp
NM_022787.4:c.619C>T