Canonical Allele Identifier: PA1139674132
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863722
ClinVar RCV Id: RCV001070752 RCV003886480
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1166Tyr
CA392325255
NM_000138.5:c.3497G>A