Canonical Allele Identifier: PA294576
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 155896
ClinVar RCV Id: RCV000144027 RCV001243750 RCV003998157 RCV002483277
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005563.1:p.Met348Ile
CA016471
NM_005572.4:c.1044G>T
CA342820261
NM_005572.4:c.1044G>A
CA342820262
NM_005572.4:c.1044G>C