Canonical Allele Identifier: PA304292
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163462
ClinVar RCV Id: RCV000150696 RCV000181613 RCV000524504 RCV000586322 RCV000415147 RCV000515426 RCV000766256 RCV003448975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2585Thr
CA017354
NM_000138.5:c.7754T>C