Canonical Allele Identifier: PA916037619
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102833
ClinVar RCV Id: RCV000089092 RCV000758091
ClinVar Variation Id: 1066686
ClinVar RCV Id: RCV001377752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe263Leu
CA229760
NM_001354304.2:c.789C>G
CA386295393
NM_001354304.2:c.789C>A
CA386295406
NM_001354304.2:c.787T>C