Canonical Allele Identifier: PA915980233
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 645128
ClinVar RCV Id: RCV000799155 RCV001556932 RCV002332618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser1420Asn
CA3395020
NM_001999.4:c.4259G>A