Canonical Allele Identifier: PA1139674499
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940459
ClinVar RCV Id: RCV001210052 RCV001797827 RCV002327482 RCV004010676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys1392Glu
CA269520388
NM_000138.5:c.4174A>G