Canonical Allele Identifier: PA1139728194
Gene: PAH HGNC NCBI
ClinVar Allele:
920559
ClinVar RCV:
RCV001200002
ClinVar Variation:
932268
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg420Met
CA6748704
NM_001354304.2:c.1259G>T