Canonical Allele Identifier: PA913197970
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 626105
ClinVar RCV Id: RCV000768221
ClinVar Variation Id: 1030505
ClinVar RCV Id: RCV001332074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn1165Lys
CA3395210
NM_001999.4:c.3495C>A
CA360759522
NM_001999.4:c.3495C>G