Canonical Allele Identifier: PA2741887794
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2682903
ClinVar RCV Id: RCV003481770

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Thr2017Ile
CA3394509
NM_001999.4:c.6050C>T