Canonical Allele Identifier: PA281803
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36077
ClinVar RCV Id: RCV000029739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser152Cys
CA015186
NM_000138.5:c.454A>T