Canonical Allele Identifier: PA658660570
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457182
ClinVar RCV Id: RCV000559409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys958Ser
CA392330133
NM_000138.5:c.2873G>C
CA392330141
NM_000138.5:c.2872T>A