Canonical Allele Identifier: PA658692302
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495629
ClinVar RCV Id: RCV000589788 RCV000663814 RCV001240585 RCV004024673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1915Cys
CA392341191
NM_000138.5:c.5743C>T