Canonical Allele Identifier: PA645404230
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418630
ClinVar RCV Id: RCV000485013 RCV000803376 RCV001179088 RCV002506159 RCV003226302 RCV004002262
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg627His
CA046227
NM_000138.5:c.1880G>A