Canonical Allele Identifier: PA915960365
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 659714
ClinVar RCV Id: RCV000816758

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His2790Arg
CA392319349
NM_000138.5:c.8369A>G