ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825187707
Gene: APRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2538840
ClinVar RCV Id:
RCV003261529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000476.1:p.Ala116Val
CA8234445
NM_000485.3:c.347C>T