ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672638
Gene: APRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
988063
ClinVar RCV Id:
RCV001269455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025189.1:p.Leu130Pro
CA397087624
NM_001030018.2:c.389T>C