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: PA224207

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 96530

ClinVar RCV Id: RCV000082684

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733821.1:p.Ser625Arg	CA015267 NM_170707.4:c.1873A>C CA342827516 NM_170707.4:c.1875C>A CA342827518 NM_170707.4:c.1875C>G