Canonical Allele Identifier: PA126541
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16466
ClinVar RCV Id: RCV000017930 RCV000809693 RCV000150705 RCV000663457 RCV002390114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg485Cys
CA012160
NM_000138.5:c.1453C>T