Canonical Allele Identifier: PA281793
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36061
ClinVar RCV Id: RCV000541723 RCV000590133 RCV000777737 RCV001558963 RCV002477019 RCV003227610 RCV003996125
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1009Arg
CA013673
NM_000138.5:c.3026C>G