Canonical Allele Identifier: PA304156
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200047
ClinVar RCV Id: RCV000181523 RCV000659544 RCV001178818 RCV001312619 RCV002485195 RCV003996689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1498Val
CA015134
NM_000138.5:c.4492A>G