ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101932
Gene: PNP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000261.2:p.Tyr192Cys
NM_000270.4:c.575A>G