Canonical Allele Identifier: PA645405424
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406339
ClinVar RCV Id: RCV000466201 RCV001185791 RCV001000163 RCV002481399 RCV004000736 RCV003235219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1667Ile
CA054126
NM_000138.5:c.4999G>A