Canonical Allele Identifier: PA2741887650
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2914857
ClinVar RCV Id: RCV003642287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1164Leu
CA360759536
NM_001999.4:c.3491G>T