Canonical Allele Identifier: PA211426
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161241
ClinVar RCV Id: RCV000148496 RCV000181611 RCV001189181 RCV001315977 RCV002492541 RCV003998169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2554Trp
CA017315
NM_000138.5:c.7660C>T