Canonical Allele Identifier: PA645404802
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418194
ClinVar RCV Id: RCV000478007
ClinVar Variation Id: 684730
ClinVar RCV Id: RCV000845244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1095Ser
CA16619961
NM_000138.5:c.3283T>A
CA392327265
NM_000138.5:c.3284G>C