Canonical Allele Identifier: PA2580231142
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1917938
ClinVar RCV Id: RCV002601709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Cys217Phe
CA386296634
NM_001354304.2:c.650G>T