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
ENSP00000303500.2:p.[Asn218_Ile219delinsLysPhe;Gln221_Gln227delinsSerTrpLysThr;Gln230_Thr231delinsSerSer;Thr233_Phe235del;Arg238_Pro239delinsAlaLeu;Val240_Ala241insSer;Gly242delinsSerAsp;Leu243_Leu244insTrp;Ser245_Asp248delinsAlaCysPheProLeuGly]
CA16020835
ENST00000307000.7:c.654del