Canonical Allele Identifier: PA304114
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200021
ClinVar RCV Id: RCV000181492 RCV003996683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1205Ser
CA014371
NM_000138.5:c.3614A>G