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.[Gly247_Leu248delinsAlaCysPhePro;Ser250_Phe263delinsGlyIleSerTrpValAlaTrpProSerGluSerSerThrAla;Cys265Ser;Gln267_Gly272delinsSerAspMetAspPro;Lys274del;Met276Cys]
CA16020849
NM_000277.3:c.740del