Canonical Allele Identifier: PA304068
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199997
ClinVar RCV Id: RCV000181461 RCV000663541 RCV000778031 RCV001852278 RCV002503704 RCV003993865
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu812Lys
CA013064
NM_000138.5:c.2434G>A