Canonical Allele Identifier: PA658661107
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457237
ClinVar RCV Id: RCV000556862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1942Gly
CA392340125
NM_000138.5:c.5824T>G