Canonical Allele Identifier: PA346343
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180354
ClinVar RCV Id: RCV000157228 RCV000705056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1485Arg
CA015083
NM_000138.5:c.4453T>C