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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:
PA2829603244
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1364825
ClinVar RCV Id:
RCV001942505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.Arg225Leu
CA342817174
NM_005572.4:c.674G>T