Canonical Allele Identifier: PA658800680
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519707
ClinVar RCV Id: RCV000663702 RCV001814198 RCV002314309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1415Arg
CA392318000
NM_000138.5:c.4243T>C