Canonical Allele Identifier: PA2573162696
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469554
ClinVar RCV Id: RCV001961632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys336Tyr
CA392347898
NM_000138.5:c.1007G>A