Canonical Allele Identifier: PA645404825
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430152
ClinVar RCV Id: RCV000493457 RCV000663638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1138Arg
CA392326402
NM_000138.5:c.3412T>C