Canonical Allele Identifier: PA2573220263
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366643
ClinVar RCV Id: RCV001944779

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gly399Arg
CA3395862
NM_001999.4:c.1195G>A
CA360750466
NM_001999.4:c.1195G>C