Canonical Allele Identifier: PA104994
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10049
ClinVar RCV Id: RCV000010749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Asp177Tyr
CA255001
NM_000194.3:c.529G>T