Canonical Allele Identifier: PA645406353
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263398
ClinVar RCV Id: RCV000794952 RCV000780252 RCV000480933 RCV002310834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2570Lys
CA10587791
NM_000138.5:c.7708G>A