Canonical Allele Identifier: PA913191828
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 632809
ClinVar RCV Id: RCV000780249 RCV002334454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1534Ser
CA269551783
NM_000138.5:c.4601G>C
CA392353155
NM_000138.5:c.4600T>A