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: PA217723

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_005563.1:p.Gln355del	CA016519 NM_005572.4:c.1057C>T CA016527 NM_005572.4:c.1063C>T CA016535 NM_005572.4:c.1064_1066del CA342820294 NM_005572.4:c.1060C>T