ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826657663
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14498
ClinVar RCV Id:
RCV000015590
RCV000057479
RCV000653885
RCV000826146
RCV001176301
RCV000986429
RCV002467495
RCV003162253
RCV003996100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269553.1:p.Arg217Cys
CA018809
NM_001282624.2:c.649C>T