Canonical Allele Identifier: PA2573163268
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416068

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1496Met
CA053175
NM_000138.5:c.4487C>T