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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267640
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
120266
ClinVar RCV Id:
RCV000106347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Phe55Ser
CA267639
NM_000277.3:c.164T>C