Canonical Allele Identifier: PA295477
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163480
ClinVar RCV Id: RCV000150704 RCV000524497 RCV000767974 RCV001526942 RCV001798467 RCV001556720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg627Cys
CA012647
NM_000138.5:c.1879C>T