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: PA2826442975

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 952652

ClinVar RCV Id: RCV001224799 RCV001775158

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244303.1:p.Thr112Ile	CA342817171 NM_001257374.3:c.335C>T