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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:
PA229860
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102902
ClinVar RCV Id:
RCV000089166
RCV000669990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala313Thr
CA229859
NM_000277.3:c.937G>A