Canonical Allele Identifier: PA1139674775
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933374
ClinVar RCV Id: RCV001201573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1504Ile
CA392353609
NM_000138.5:c.4511A>T