ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825135831
Gene: PNP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000261.2:p.Ala28Val
CA389144363
NM_000270.4:c.83C>T