Canonical Allele Identifier: PA1139674921
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926574
ClinVar RCV Id: RCV001189252 RCV001760143 RCV001862991 RCV004010351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1533Ser
CA392353160
NM_000138.5:c.4598A>G