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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:
PA284690
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66762
ClinVar RCV Id:
RCV000057218
RCV000500548
RCV000653911
RCV000845011
RCV000754811
RCV002504959
RCV003996495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Arg349Trp
CA016479
NM_170708.4:c.1045C>T