ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057571485
Gene: PAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Gln232Leu
CA386296557
NM_001354304.2:c.695A>T