Canonical Allele Identifier: PA645404249
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237083
ClinVar RCV Id: RCV000229819 RCV001378355
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys639Tyr
CA10583253
NM_000138.5:c.1916G>A