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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:
PA2742015084
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2728396
ClinVar RCV Id:
RCV003581262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Met352Thr
CA342820281
NM_170708.4:c.1055T>C