Canonical Allele Identifier: PA149710
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36118
ClinVar RCV Id: RCV000029780 RCV000083258 RCV000539171 RCV000788741 RCV001374808 RCV002399340 RCV003492302 RCV004532416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2576Cys
CA017349
NM_000138.5:c.7726C>T