Canonical Allele Identifier: PA1139677879
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927358
ClinVar RCV Id: RCV001190582 RCV004010443
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2789His
CA392319373
NM_000138.5:c.8365A>C