Canonical Allele Identifier: PA645405013
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406297
ClinVar RCV Id: RCV000464833 RCV001181137 RCV002481397 RCV004000731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1262Lys
CA051513
NM_000138.5:c.3785G>A