ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741927048
Gene: NPPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2836027
ClinVar RCV Id:
RCV003631919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006163.1:p.Leu20Val
CA338451942
NM_006172.4:c.58C>G