Canonical Allele Identifier: PA645403942
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316388
ClinVar RCV Id: RCV000260937 RCV000300817 RCV000311219 RCV000324354 RCV000353445 RCV000358152 RCV000406479 RCV001220849 RCV001770257
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile295Met
CA060328
NM_000138.5:c.885T>G