Canonical Allele Identifier: PA645405071
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263872
ClinVar RCV Id: RCV002310878 RCV002518700
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1366Gln
CA052073
NM_000138.5:c.4096G>C