Canonical Allele Identifier: PA346339
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180352
ClinVar RCV Id: RCV000157225 RCV000256026 RCV000507510 RCV000589881 RCV000631935 RCV000763358 RCV003105802 RCV002313006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg545Cys
CA012342
NM_000138.5:c.1633C>T