Canonical Allele Identifier: PA645406476
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374081
ClinVar RCV Id: RCV000414807
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2672Trp
CA16043490
NM_000138.5:c.8016T>G