ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499289433
Gene: NMNAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073624.2:p.Val82Ala
CA18234679
NM_022787.4:c.245T>C