ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057516483
Gene: NPPA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005076534
ClinVar Variation:
3618934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006163.1:p.Leu97Phe
CA338450281
NM_006172.4:c.289C>T