Canonical Allele Identifier: PA645405803
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430389
ClinVar RCV Id: RCV000494160 RCV000663825 RCV000699760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1947Arg
CA392340092
NM_000138.5:c.5839T>C