Canonical Allele Identifier: PA2825058562
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072949
ClinVar RCV Id: RCV004014963
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1495Ile
CA392353749
NM_000138.5:c.4484C>T