Allele Registry

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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