Canonical Allele Identifier: PA2573162463
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2777Asn
CA392319578
NM_000138.5:c.8330T>A