Canonical Allele Identifier: PA2573071351
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1327566
ClinVar RCV Id: RCV001789828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala389Glu
CA16020954
NM_001354304.2:c.1166C>A