Canonical Allele Identifier: PA1139673991
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811720
ClinVar RCV Id: RCV001002018
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1115del
CA915946583
NM_000138.5:c.3345_3347del