ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037419
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376937
ClinVar RCV Id:
RCV000430873
RCV000664524
RCV002265754
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ile97Leu
CA6748987
NM_001354304.2:c.289A>C