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
XP_011536724.1:p.[Leu328_Leu346delinsSerCysHisProLeuValAsnTyrSerThrAlaTyrGlnArgSerGlnSerPheSer;Leu348_Asn357delinsTrpSerTrpArgArgGlnProSerLys]
CA229295
XM_011538422.1:c.981del