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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Arg118_Phe144delinsGluProPheLysSerTrpThrAspLeuProIleArgPheSerAlaMetGluArgAsnTrpMetLeuThrThrLeuValLeu;Asp146_Pro147delinsIleLeu]
CA2620507586
ENST00000307000.7:c.352del