Canonical Allele Identifier: PA2825057832
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016566
ClinVar RCV Id: RCV002843964
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys935Gly
CA392330606
NM_000138.5:c.2803T>G