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.[Gly213_Ile219delinsAlaSerMetLysIleThrPhe;Gln221_Val225delinsSerTrpLysThrPheLeu;Gln227_Phe228delinsSerCysArg;Gln230_Arg236delinsAlaLeuValSerAlaSerAsp;Arg238_Val240delinsTrpLeu;Gly242del]
CA16020830
ENST00000307000.7:c.638del