Canonical Allele Identifier: PA295225
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161237
ClinVar RCV Id: RCV000148491 RCV000552622 RCV000593778 RCV001118563 RCV001118564 RCV001118565 RCV001118566 RCV001118561 RCV001118562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2616Val
CA017414
NM_000138.5:c.7846A>G