Canonical Allele Identifier: PA658660555
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457180
ClinVar RCV Id: RCV000559175
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu913Ala
CA392330886
NM_000138.5:c.2738A>C