Canonical Allele Identifier: PA2573163285
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507616
ClinVar RCV Id: RCV002013542
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1534Arg
CA392353154
NM_000138.5:c.4600T>C