Canonical Allele Identifier: PA645404694
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263632
ClinVar RCV Id: RCV000253902 RCV000283744 RCV000333243 RCV000341215 RCV000380751 RCV000403646 RCV000288603 RCV000617142 RCV000868279 RCV000609438 RCV002278227 RCV001697728 RCV004535218
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1030Ser
CA049873
NM_000138.5:c.3089A>G