Allele Registry

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.

Canonical Allele Identifier: PA2826443362

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66768

ClinVar RCV Id: RCV000057224

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244303.1:p.Gln243del	CA016519 NM_001257374.3:c.721C>T CA016527 NM_001257374.3:c.727C>T CA016535 NM_001257374.3:c.728_730del CA342820294 NM_001257374.3:c.724C>T