Canonical Allele Identifier: PA304074
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200001
ClinVar RCV Id: RCV000181465 RCV000616479 RCV000663562 RCV000807820 RCV001001395 RCV000763356 RCV000780242 RCV001198804
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala882Val
CA013258
NM_000138.5:c.2645C>T