Canonical Allele Identifier: PA304136
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200037
ClinVar RCV Id: RCV000181509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1382Lys
CA014779
NM_000138.5:c.4146T>A
CA392320240
NM_000138.5:c.4146T>G