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
ENSP00000448059.1:p.[Ala165_His170delinsThrThrThrAlaMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Trp187delinsArgLysHis;Thr189_Thr193delinsAlaGlnCysSerArg;Lys195del]
CA2580085681
ENST00000553106.6:c.493_496del