Canonical Allele Identifier: PA645406379
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264272
ClinVar RCV Id: RCV001374807 RCV000540250 RCV000659583 RCV002311119 RCV000763353 RCV003441830
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2610Lys
CA10587789
NM_000138.5:c.7828G>A