ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037778
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
552458
ClinVar RCV Id:
RCV000667720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Cys357Arg
CA386493360
NM_001354304.2:c.1069T>C