Canonical Allele Identifier: PA2825137867
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1719791
ClinVar RCV Id: RCV002303977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Lys50Glu
CA6749041
NM_000277.3:c.148A>G