Canonical Allele Identifier: PA915959667
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636765
ClinVar RCV Id: RCV000788685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1337Val
CA392320564
NM_000138.5:c.4010C>T