ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037581
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000619
RCV000078528
RCV002512610
RCV003407250
ClinVar Variation:
588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg243Ter