Canonical Allele Identifier: PA323259
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213266

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg73Ser
CA323258
NM_001999.4:c.217C>A