Canonical Allele Identifier: PA2573163141
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1472021
ClinVar RCV Id: RCV002002794
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1221Ser
CA392324425
NM_000138.5:c.3662G>C
CA392324431
NM_000138.5:c.3661T>A