Canonical Allele Identifier: PA1139677943
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953802
ClinVar RCV Id: RCV001226147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser2813Cys
CA392319062
NM_000138.5:c.8437A>T