Canonical Allele Identifier: PA320217
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213255
ClinVar RCV Id: RCV000195837 RCV000284862 RCV002277513 RCV002310776 RCV002500602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Leu2747Val
CA320216
NM_001999.4:c.8239C>G