Canonical Allele Identifier: PA2825058630
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073048
ClinVar RCV Id: RCV004015062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1531Pro
CA392353175
NM_000138.5:c.4591T>C