Canonical Allele Identifier: PA658800897
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519780
ClinVar RCV Id: RCV001238290 RCV002313267
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2251Ser
CA392332881
NM_000138.5:c.6752G>C
CA392332895
NM_000138.5:c.6751T>A