ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826660752
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14517
ClinVar RCV Id:
RCV000015612
RCV000015613
RCV000015614
RCV000057351
RCV000041329
RCV000617932
RCV000653881
RCV001188887
RCV002221478
RCV002509159
RCV001248900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269555.1:p.Ser573Leu
CA020299
NM_001282626.2:c.1718C>T