ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138203
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660581
ClinVar RCV Id:
RCV000817803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gln375Glu
CA6748741
NM_000277.3:c.1123C>G