Canonical Allele Identifier: PA658800818
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519734
ClinVar RCV Id: RCV002314329

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1959Lys
CA392340006
NM_000138.5:c.5877T>G
CA392340007
NM_000138.5:c.5877T>A