Canonical Allele Identifier: PA1139677755
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921320
ClinVar RCV Id: RCV001180668
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2746Lys
CA392320199
NM_000138.5:c.8236G>A