Canonical Allele Identifier: PA304124
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200029
ClinVar RCV Id: RCV000414982 RCV000533830 RCV000726149 RCV001170559 RCV003996685
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly47Ser
CA012118
NM_000138.5:c.139G>A