Canonical Allele Identifier: PA1139742183
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987911
ClinVar RCV Id: RCV001269317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Tyr317His
CA16020903
NM_001354304.2:c.949T>C