ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106496
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102889
ClinVar RCV Id:
RCV000089151
RCV000993625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ser303Pro
CA229841
NM_000277.3:c.907T>C