Canonical Allele Identifier: PA1139674939
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924833
ClinVar RCV Id: RCV001186424 RCV004008602
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1537Tyr
CA392353133
NM_000138.5:c.4609G>T