Canonical Allele Identifier: PA658692330
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495631
ClinVar RCV Id: RCV000590437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1967_Cys1971del
CA658683890
NM_000138.5:c.5898_5912del