ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229714
Gene: PAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000268.1:p.Phe240Val
NM_000277.3:c.718T>G