Canonical Allele Identifier: PA2580223004
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2200553
ClinVar RCV Id: RCV002654752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser251Phe
CA6748846
NM_001354304.2:c.752C>T