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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:
PA2826659036
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2452987
ClinVar RCV Id:
RCV003177761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269554.1:p.Arg351Ser