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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:
PA2827304085
Gene: MRE11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1799941
ClinVar RCV Id:
RCV002460589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317276.1:p.Val378Ile
CA382372973
NM_001330347.2:c.1132G>A