Canonical Allele Identifier: PA916037519
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120280
ClinVar RCV Id: RCV000106361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu197Phe
CA267662
NM_001354304.2:c.591G>C
CA386296753
NM_001354304.2:c.591G>T