ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218294
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041352
RCV000057410
ClinVar Variation:
48068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Leu162Pro
CA018144
NM_170707.4:c.485T>C