Canonical Allele Identifier: PA658660526
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457173
ClinVar RCV Id: RCV000539094

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys876Arg
CA392332322
NM_000138.5:c.2626T>C