Canonical Allele Identifier: PA345810
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155794
ClinVar RCV Id: RCV000143894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1928Phe
CA016047
NM_000138.5:c.5783G>T