Canonical Allele Identifier: PA2499228803
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069285
ClinVar RCV Id: RCV001381097 RCV003481103
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1502Arg
CA392353643
NM_000138.5:c.4504T>C