Canonical Allele Identifier: PA1139674517
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927657
ClinVar RCV Id: RCV001191054 RCV001348656 RCV001293526 RCV002497668 RCV004010479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1397Val
CA052152
NM_000138.5:c.4190G>T