Canonical Allele Identifier: PA304144
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200041
ClinVar RCV Id: RCV000471621 RCV000505775 RCV000663701 RCV000757265 RCV001116403 RCV001116399 RCV001116400 RCV001116401 RCV001116402 RCV001116404 RCV004537523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu1405Arg
CA014858
NM_000138.5:c.4214T>G