Canonical Allele Identifier: PA916037566
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102790
ClinVar RCV Id: RCV000089041 RCV002259588
ClinVar Variation Id: 1327558
ClinVar RCV Id: RCV001789820
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe233Leu
CA229699
NM_001354304.2:c.699C>A
CA16020844
NM_001354304.2:c.699C>G
CA386296554
NM_001354304.2:c.697T>C