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: PA2826442988

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1978461

ClinVar RCV Id: RCV002775064

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244303.1:p.Val115Met	CA342817182 NM_001257374.3:c.343G>A