Canonical Allele Identifier: PA104994
Gene: HPRT1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

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