Canonical Allele Identifier: PA104942
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10048
ClinVar RCV Id: RCV000010748
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Arg45Lys
CA255000
NM_000194.3:c.134G>A