ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658825358
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558091
ClinVar RCV Id:
RCV000674315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro416Gln
CA16020981
NM_000277.3:c.1247C>A