Canonical Allele Identifier: PA101669
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 526
ClinVar RCV Id: RCV000000555

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys1142Phe
CA281517
NM_001999.4:c.3425G>T