Canonical Allele Identifier: PA2825056825
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773404
ClinVar RCV Id: RCV003528086 RCV004011463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr101Ser
CA392446970
NM_000138.5:c.302C>G
CA392446973
NM_000138.5:c.301A>T