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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:
PA217713
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66766
ClinVar RCV Id:
RCV000057222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Gln353Lys
CA016511
NM_170708.4:c.1057C>A