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.[Leu142_Phe149delinsHisAsnLysTrpMetLeuThrThrLeuValLeu;Asp151_His170delinsIleLeuCysThrValGlnAspGlySerSerLeuLeuThrLeuProThrThrThrAlaMet]
CA2059462469
ENST00000553106.6:c.424_425insACAATAAG