Canonical Allele Identifier: PA1139742082
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV001200012
ClinVar Variation:
932275
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe219Ser
CA16020831
NM_001354304.2:c.656T>C