Canonical Allele Identifier: PA2573206289
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1421014
ClinVar RCV Id: RCV001923642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu365Phe
CA242744261
NM_001354304.2:c.1093C>T