Canonical Allele Identifier: PA913191891
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 618123
ClinVar RCV Id: RCV000756146
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His2685Gln
CA392321661
NM_000138.5:c.8055C>G
CA392321663
NM_000138.5:c.8055C>A