Canonical Allele Identifier: PA105367
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10036

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Phe74Leu
CA120892
NM_000194.3:c.222C>A
CA414712108
NM_000194.3:c.220T>C
CA414712113
NM_000194.3:c.222C>G