Canonical Allele Identifier: PA131171
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42334

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1141Leu
CA014098
NM_000138.5:c.3422C>T