Canonical Allele Identifier: PA916037738
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 624
ClinVar RCV Id: RCV000000655 RCV000089195 RCV002259565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu333Phe
CA114366
NM_001354304.2:c.997C>T