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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:
PA333209
Gene: MRE11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141414
ClinVar RCV Id:
RCV000129920
RCV000627765
RCV000766156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005582.1:p.Gly102Val
CA333207
NM_005591.4:c.305G>T