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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:
PA2828397645
Gene: MEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241813
ClinVar RCV Id:
RCV000226206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357189.2:p.Lys135Gln
CA10582944
NM_001370260.2:c.403A>C