Canonical Allele Identifier: PA2573206243
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1511080
ClinVar RCV Id: RCV002014335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala313Glu
CA386291666
NM_001354304.2:c.938C>A