Canonical Allele Identifier: PA916037665
Gene: PAH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001341233.1:p.Pro281Leu
NM_001354304.2:c.[837del;839A>G;841C>A;84...

NM_001354304.2:c.[837del;839A>G;841C>G;84...

NM_001354304.2:c.842C>T