Canonical Allele Identifier: PA2580231139
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV002632740
ClinVar Variation:
2191302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ile209Thr
CA386296684
NM_001354304.2:c.626T>C