ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217796
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66782
ClinVar RCV Id:
RCV000057243
RCV003581572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.Arg386Lys
CA016734
NM_005572.4:c.1157G>A