Canonical Allele Identifier: PA658661012
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457227
ClinVar RCV Id: RCV000548673 RCV004003788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1631Ser
CA392351154
NM_000138.5:c.4892G>C
CA392351157
NM_000138.5:c.4891T>A