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.[Asn393_Lys396delinsLysCysGlnGly;Glu397_Lys398insSer;Val399_Ala404delinsGluLeuCysCysHisAsn;Ile406_Phe410delinsSerAlaLeuLeuSer;Val412Leu;Tyr414_Asp415del;Tyr417_Val423delinsIleHisProLysAsp]
CA682822360
NM_000277.3:c.1179_1180del