ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081107932
Gene: PNP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000261.2:p.Arg234Leu
CA389145967
NM_000270.4:c.701G>T