Canonical Allele Identifier: PA126531
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16447
ClinVar RCV Id: RCV000017910

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1131Tyr
CA014044
NM_000138.5:c.3391A>T