Canonical Allele Identifier: PA2825060410
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2943060
ClinVar RCV Id: RCV003800178

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2779Ala
CA392319542
NM_000138.5:c.8336A>C