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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:
PA2825100516
Gene: MEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485714
ClinVar RCV Id:
RCV000573513
RCV000632090
RCV002253513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000235.3:p.Ala181Ser
CA061279
NM_000244.4:c.541G>T