Canonical Allele Identifier: PA242499
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195848
ClinVar RCV Id: RCV000176520 RCV000230049 RCV001190471 RCV004528938 RCV002478578 RCV003995686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met977Arg
CA013544
NM_000138.5:c.2930T>G