Canonical Allele Identifier: PA915959777
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684493
ClinVar RCV Id: RCV004545805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp1570Arg
CA392352917
NM_000138.5:c.4708T>C
CA392352919
NM_000138.5:c.4708T>A