Canonical Allele Identifier: PA304022
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199974
ClinVar RCV Id: RCV000181437 RCV002516835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys555Phe
CA012433
NM_000138.5:c.1664G>T