Canonical Allele Identifier: PA2741887727
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806624
ClinVar RCV Id: RCV003641405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ala1423Val
CA360754111
NM_001999.4:c.4268C>T