Canonical Allele Identifier: PA323416
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213311
ClinVar RCV Id: RCV000198884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.His1189Pro
CA323415
NM_001999.4:c.3566A>C