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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:
PA2828397967
Gene: MEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2839089
ClinVar RCV Id:
RCV003631955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357189.2:p.Leu254Met
CA381184241
NM_001370260.2:c.760C>A