Canonical Allele Identifier: PA1139674735
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953342
ClinVar RCV Id: RCV001225622
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1491Trp
CA392353804
NM_000138.5:c.4473C>G