ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573206248
Gene: PAH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001341233.1:p.Asp315Glu
NM_001354304.2:c.945T>A
NM_001354304.2:c.945T>G