ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510725
Gene: NMNAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438133
ClinVar RCV Id:
RCV000504848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073624.2:p.Ser162Tyr
CA338686519
NM_022787.4:c.485C>A