Canonical Allele Identifier: PA2580254161
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201303
ClinVar RCV Id: RCV002629591 RCV003234227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp1160Glu
CA127014943
NM_001999.4:c.3480C>A
CA360759588
NM_001999.4:c.3480C>G