Canonical Allele Identifier: PA2573163149
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350034
ClinVar RCV Id: RCV002039454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1236Gly
CA392324306
NM_000138.5:c.3706T>G