ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138202
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
991616
ClinVar RCV Id:
RCV001279859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ile374Val
CA6748742
NM_000277.3:c.1120A>G