Canonical Allele Identifier: PA2573061462
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331944
ClinVar RCV Id: RCV001804460

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1528Glu
CA392353186
NM_000138.5:c.4584T>G
CA392353188
NM_000138.5:c.4584T>A