Canonical Allele Identifier: PA916037711
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV000515773
ClinVar Variation:
446506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly312Cys
CA386291684
NM_001354304.2:c.934G>T