ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138255
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327552
ClinVar RCV Id:
RCV001789814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr417Asp
CA16020982
NM_000277.3:c.1249T>G