Canonical Allele Identifier: PA915959301
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646759
ClinVar RCV Id: RCV000801115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys685Ser
CA392338286
NM_000138.5:c.2054G>C
CA392338297
NM_000138.5:c.2053T>A