Canonical Allele Identifier: PA645405281
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373598
ClinVar RCV Id: RCV000414351 RCV000631906 RCV003235201 RCV002480269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1489Ser
CA16042872
NM_000138.5:c.4466A>G