Canonical Allele Identifier: PA645406093
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 385605
ClinVar RCV Id: RCV000425848 RCV003766302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2265Gly
CA16607084
NM_000138.5:c.6793T>G