ClinGen Allele Registry
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Canonical Allele Identifier:
PA105278
Gene: HPRT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
25073
ClinVar RCV:
RCV000010722
RCV000010723
ClinVar Variation:
10034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.Leu41Pro
CA120890
NM_000194.3:c.122T>C