This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Ile269_Lys274delinsThrAspMetAspProSer;Met276_Thr278delinsCysIlePro;Glu280_Val291delinsAsnLeuThrSerAlaMetSerCysTrpAspMetCys;Leu293Cys;Ser295_Ser298delinsGlnIleAlaAla]
CA229778
NM_000277.3:c.806del