Canonical Allele Identifier: PA1139728153
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987913
ClinVar RCV Id: RCV001269322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro416Thr
CA16020980
NM_001354304.2:c.1246C>A