ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079280656
Gene: PAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala313Ser
CA6748788
NM_000277.3:c.937G>T