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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:
PA2573164546
Gene: PDX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1415209
ClinVar RCV Id:
RCV001932971
RCV002503590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000200.1:p.Pro33His
CA6927581
NM_000209.4:c.98C>A