Canonical Allele Identifier: PA658826133
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549450
ClinVar RCV Id: RCV000664007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2672Ser
CA392322644
NM_000138.5:c.8015G>C
CA392322653
NM_000138.5:c.8014T>A