Canonical Allele Identifier: PA2580223022
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2419016
ClinVar RCV Id: RCV003112260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe260Leu
CA386295463
NM_001354304.2:c.780C>G
CA386295468
NM_001354304.2:c.780C>A
CA386295490
NM_001354304.2:c.778T>C