Canonical Allele Identifier: PA2825138208
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1693226
ClinVar RCV Id: RCV002260485 RCV003478955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Val379Ala
CA6748738
NM_000277.3:c.1136T>C