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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:
PA2829606526
Gene: MRE11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141307
ClinVar RCV Id:
RCV000129776
RCV000524511
RCV000780433
RCV000992323
RCV003467120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005581.2:p.Arg380His
CA165066
NM_005590.4:c.1139G>A