ClinGen Allele Registry
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Canonical Allele Identifier:
PA915957438
Gene: APRT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001025189.1:p.Trp98Ter
NM_001030018.2:c.293G>A
NM_001030018.2:c.294G>A