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: PA2826658762

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2733996

ClinVar RCV Id: RCV003581425

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269554.1:p.Leu226Val	CA342817176 NM_001282625.2:c.676C>G