Canonical Allele Identifier: PA281864
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36129
ClinVar RCV Id: RCV000029792 RCV000252734 RCV000427863 RCV000777720 RCV001306947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2771Ile
CA017685
NM_000138.5:c.8311G>A