Canonical Allele Identifier: PA645405851
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431924
ClinVar RCV Id: RCV000497640 RCV000663849 RCV003485593 RCV003766792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2038Tyr
CA269530715
NM_000138.5:c.6113G>A