Canonical Allele Identifier: PA2825058631
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773342
ClinVar RCV Id: RCV003528025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1532Arg
CA392353168
NM_000138.5:c.4594G>C
CA392353169
NM_000138.5:c.4594G>A