Canonical Allele Identifier: PA322180
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213240
ClinVar RCV Id: RCV000197720 RCV001053741 RCV002354544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1989His
CA322179
NM_001999.4:c.5966G>A