ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217820
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66789
ClinVar RCV Id:
RCV000057250
RCV001854173
RCV003992172
RCV003996498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Arg388Cys
CA016798
NM_170707.4:c.1162C>T