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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:
PA2826443371
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2756516
ClinVar RCV Id:
RCV003582948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244303.1:p.Gln243Lys
CA342820300
NM_001257374.3:c.727C>A