Canonical Allele Identifier: PA658800929
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519781
ClinVar RCV Id: RCV001039062 RCV002313268
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2461Ser
CA392327866
NM_000138.5:c.7382A>G