Canonical Allele Identifier: PA658660989
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457222
ClinVar RCV Id: RCV000543345 RCV002314923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1565Phe
CA392352952
NM_000138.5:c.4694C>T