Canonical Allele Identifier: PA916037375
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92734
ClinVar RCV Id: RCV000078512 RCV000150092 RCV000588067 RCV002251964
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe55Leu
CA273114
NM_001354304.2:c.165T>G
CA386302284
NM_001354304.2:c.165T>A
CA386302288
NM_001354304.2:c.163T>C