Canonical Allele Identifier: PA105419
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10073
ClinVar RCV Id: RCV000010776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Thr168Ile
CA120905
NM_000194.3:c.503C>T