Canonical Allele Identifier: PA658693297
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495651
ClinVar RCV Id: RCV000588232 RCV000803256 RCV003302901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2595Asp
CA392324563
NM_000138.5:c.7784G>A