Canonical Allele Identifier: PA645405502
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430150
ClinVar RCV Id: RCV000493791 RCV000626616 RCV000626617 RCV000779168 RCV001387308 RCV001293674 RCV002279270 RCV004556061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1728Val
CA392349119
NM_000138.5:c.5183C>T