ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104891
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10041
ClinVar RCV Id:
RCV000010736
RCV000010737
RCV003764547
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.Ala161Ser
CA120896
NM_000194.3:c.481G>T