Allele Registry

Canonical Allele Identifier: PA104994

Gene: HPRT1 HGNC NCBI

ClinVar RCV:

RCV000010749

ClinVar Variation:

10049

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