Canonical Allele Identifier: PA1139677887
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848113
ClinVar RCV Id: RCV001051801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2795Asn
CA392319276
NM_000138.5:c.8384T>A