Canonical Allele Identifier: PA1139727942
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932253
ClinVar RCV Id: RCV001199977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu348Pro
CA16020922
NM_001354304.2:c.1043T>C