Canonical Allele Identifier: PA658660829
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457199
ClinVar RCV Id: RCV000553629 RCV000788460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1265Ser
CA392323789
NM_000138.5:c.3794G>C
CA392323794
NM_000138.5:c.3793T>A