Canonical Allele Identifier: PA916037586
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 632
ClinVar RCV Id: RCV000000664 RCV000089065 RCV000346938 RCV002512615
ClinVar Variation Id: 203874
ClinVar RCV Id: RCV000186078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val245Ala
CA114372
NM_001354304.2:c.734T>C
CA312809
NM_001354304.2:c.734_735delinsCA