Canonical Allele Identifier: PA1139674459
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 915680
ClinVar RCV Id: RCV001170775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala1343Ser
CA392320530
NM_000138.5:c.4027G>T