ClinGen Allele Registry
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Canonical Allele Identifier:
PA3080146178
Gene: PAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr317Asp
CA386291609
NM_000277.3:c.949T>G