Canonical Allele Identifier: PA304134
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200036
ClinVar RCV Id: RCV000181508 RCV000663695 RCV000588449 RCV000770671 RCV001224814
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1366Lys
CA014760
NM_000138.5:c.4096G>A