Canonical Allele Identifier: PA916037540
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 430401
ClinVar RCV Id: RCV000493939 RCV000672958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu213Phe
CA386296662
NM_001354304.2:c.637C>T