Canonical Allele Identifier: PA658826070
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549374
ClinVar RCV Id: RCV000663909 RCV001224797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2295Gly
CA392330912
NM_000138.5:c.6883T>G