Canonical Allele Identifier: PA916037597
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102822
ClinVar RCV Id: RCV000089077 RCV002259595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu249His
CA229740
NM_001354304.2:c.746T>A