ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138223
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137404
ClinVar RCV Id:
RCV003062533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ser391Ile
CA16020957
NM_000277.3:c.1172G>T