Canonical Allele Identifier: PA2573061455
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332729
ClinVar RCV Id: RCV001806303
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1212Tyr
CA392324546
NM_000138.5:c.3635G>A