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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Ile38_Ser40delinsAsp;Lys42_Ala47del;Ala49_Asn61delinsThrGlnArgArgSerTrpCysIleGlyGlnSerIleAla;Thr63_His64del;Glu66_Ser67del]
CA229354
NM_000277.3:c.111dup