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: PA2830327298

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1781137

ClinVar RCV Id: RCV002412824

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733821.1:p.Gln355dup	CA2580611202 NM_170707.4:c.1064_1066dup