Canonical Allele Identifier: PA645405620
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373743
ClinVar RCV Id: RCV000414642 RCV000766250 RCV002521439 RCV003995926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1832His
CA16042961
NM_000138.5:c.5495G>A