Canonical Allele Identifier: PA2573162611
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325411
ClinVar RCV Id: RCV002034611 RCV002246024
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly92Arg
CA392447057
NM_000138.5:c.274G>C
CA392447059
NM_000138.5:c.274G>A