Canonical Allele Identifier: PA1139677862
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 979121

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His2770Tyr
CA059912
NM_000138.5:c.8308C>T