ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138245
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
935900
ClinVar RCV:
RCV001210291
ClinVar Variation:
940659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg413His
CA6748707
NM_000277.3:c.1238G>A