Canonical Allele Identifier: PA658826019
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549315
ClinVar RCV Id: RCV000663830
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1971Gly
CA392339931
NM_000138.5:c.5911T>G