ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402000
Gene: NPPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006163.1:p.Tyr151_Tyr152insArg
NM_006172.4:c.454T>A
NM_006172.4:c.454T>C