Canonical Allele Identifier: PA645405618
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429594
ClinVar RCV Id: RCV000493978 RCV001865544
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1824Arg
CA392344307
NM_000138.5:c.5470T>C