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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:
PA2825100719
Gene: MEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2961613
ClinVar RCV Id:
RCV003822259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000235.3:p.Leu261Val
CA381184198
NM_000244.4:c.781C>G