ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105157
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10045
ClinVar RCV Id:
RCV000010745
RCV000010744
RCV000790697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.Gly71Arg
CA120900
NM_000194.3:c.211G>C