Canonical Allele Identifier: PA2825058608
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925553
ClinVar RCV Id: RCV003783647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1526Ser
CA392353301
NM_000138.5:c.4577G>C
CA392353310
NM_000138.5:c.4576T>A