Canonical Allele Identifier: PA304310
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200131
ClinVar RCV Id: RCV000181632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe2804Leu
CA017739
NM_000138.5:c.8412T>G
CA392319143
NM_000138.5:c.8412T>A
CA392319153
NM_000138.5:c.8410T>C