ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826847512
Gene: NMNAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000504848
ClinVar Variation:
438133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284707.1:p.Ser162Tyr
CA338686519
NM_001297778.1:c.485C>A