ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825137846
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805803
ClinVar RCV Id:
RCV000993598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ser16Tyr
CA16020719
NM_000277.3:c.47C>A