Canonical Allele Identifier: PA2499228867
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982324
ClinVar RCV Id: RCV001374766
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1029Ser
CA392328306
NM_000138.5:c.3086T>G