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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:
PA2826923955
Gene: MEGF10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642548
ClinVar RCV Id:
RCV000796029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295050.1:p.Arg521Pro
CA360730208
NM_001308121.2:c.1562G>C