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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:
PA2825100716
Gene: MEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1714122
ClinVar RCV Id:
RCV002297105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000235.3:p.Leu259Pro
CA381184228
NM_000244.4:c.776T>C