Canonical Allele Identifier: PA2573163146
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1440223
ClinVar RCV Id: RCV001950351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1227Leu
CA392324359
NM_000138.5:c.3681T>G
CA392324360
NM_000138.5:c.3681T>A
CA392324365
NM_000138.5:c.3679T>C