Canonical Allele Identifier: PA2825058315
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074340
ClinVar RCV Id: RCV004012882

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1322Glu
CA392320665
NM_000138.5:c.3966C>G
CA392320666
NM_000138.5:c.3966C>A