Canonical Allele Identifier: PA346333
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180349
ClinVar RCV Id: RCV000157222 RCV002415683 RCV002516355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1Val