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
ENSP00000447620.1:p.[Leu15Gln;Asp17_Tyr24delinsLeuThrLeuAspArgLysGlnAla;Glu26_Gly33delinsLeuLysThrThr;Ser36_Glu44delinsLysMetValProTyrHis]
CA16020716
ENST00000551337.5:c.43_44insAG