Canonical Allele Identifier: PA645465074
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411818
ClinVar RCV Id: RCV000473008 RCV001001161
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg2353His
CA3394227
NM_001999.4:c.7058G>A