ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037510
Gene: PAH
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001341233.1:p.Trp187Ter
NM_001354304.2:c.[558del;560G>T;562G>A]
NM_001354304.2:c.[558_559del;561G>T;563G>...
NM_001354304.2:c.560G>A
NM_001354304.2:c.561G>A