Canonical Allele Identifier: PA645406324
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406349
ClinVar RCV Id: RCV001382029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2489Tyr
CA16614394
NM_000138.5:c.7466G>A