Canonical Allele Identifier: PA282235
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42375
ClinVar RCV Id: RCV000035216 RCV002513353
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1648Asn
CA015500
NM_000138.5:c.4942G>A