Canonical Allele Identifier: PA916037618
Gene: PAH HGNC NCBI
ClinVar Allele:
125879
ClinVar RCV:
RCV000106366
ClinVar Variation:
120285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val262Gly
CA267671
NM_001354304.2:c.785T>G