Canonical Allele Identifier: PA131197
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42367

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1547Ile
CA015264
NM_000138.5:c.4640C>T