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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:
PA185956
Gene: MRE11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180713
ClinVar RCV Id:
RCV000157663
RCV001011397
RCV002229382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005582.1:p.Ala47Val
CA185954
NM_005591.4:c.140C>T