ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138080
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2856848
ClinVar RCV:
RCV003496251
ClinVar Variation:
2705711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg270_Ser273del
CA2697551513
NM_000277.3:c.809_820del