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: PA284689

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66762

ClinVar RCV Id: RCV000057218 RCV000500548 RCV000653911 RCV000845011 RCV000754811 RCV002504959 RCV003996495

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733821.1:p.Arg349Trp	CA016479 NM_170707.4:c.1045C>T