ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105437
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089021
RCV001789759
ClinVar Variation:
102771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Cys217Gly
CA229673
NM_000277.3:c.649T>G