Canonical Allele Identifier: PA645419319
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 376937
ClinVar RCV Id: RCV000430873 RCV000664524 RCV002265754
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ile97Leu
CA6748987
NM_000277.3:c.289A>C