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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.[Lys371_Ala373delinsProSerLys;Gln375_Gln383delinsThrLeuSerArgSerSerSer;Leu385_Glu397delinsSerIleThrTrpGlnArgValLeuMetMetProArgArg;Val399_Phe402del]
CA2580085701
NM_001354304.2:c.1111_1117del