ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478825
Gene: PNPT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_149100.2:p.Ala510Pro
NM_033109.5:c.1528G>C