Canonical Allele Identifier: PA645464629
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 393057
ClinVar RCV Id: RCV000433947 RCV002525519 RCV002313150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn551Asp
CA3395748
NM_001999.4:c.1651A>G