Canonical Allele Identifier: PA916037570
Gene: PAH HGNC NCBI
ClinVar Allele:
610553
ClinVar RCV:
RCV000758131
ClinVar Variation:
619166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr238Ala
CA16020847
NM_001354304.2:c.712A>G