Canonical Allele Identifier: PA323012
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213364
ClinVar RCV Id: RCV000198498 RCV001088783 RCV002277529 RCV002277530 RCV002399726 RCV003947620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gln2564Glu
CA323011
NM_001999.4:c.7690C>G