Canonical Allele Identifier: PA282265
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42397
ClinVar RCV Id: RCV000035239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2040Tyr
CA016237
NM_000138.5:c.6119G>A