ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580231139
Gene: PAH
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001341233.1:p.Ile209Thr
NM_001354304.2:c.[625_626insC;627T=;630T>...
NM_001354304.2:c.[625_626insC;630T>C;632d...
NM_001354304.2:c.626T>C