Canonical Allele Identifier: PA282191
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42332
ClinVar RCV Id: RCV000035168

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1131Ser
CA014058
NM_000138.5:c.3392A>G