Canonical Allele Identifier: PA2826443388
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1786412
ClinVar RCV Id: RCV002417789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001244303.1:p.Gln248His
CA342820338
NM_001257374.3:c.744G>C
CA342820340
NM_001257374.3:c.744G>T