Canonical Allele Identifier: PA645405033
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432123
ClinVar RCV Id: RCV000498455 RCV000663680 RCV000811859
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1326Tyr
CA392320642
NM_000138.5:c.3977G>A