ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573247808
Gene: NPPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1366790
ClinVar RCV Id:
RCV001944853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006163.1:p.Ser5del
CA886105901
NM_006172.4:c.13_15del