Canonical Allele Identifier: PA658670684
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 487469

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1832Cys
CA3394684
NM_001999.4:c.5494C>T