Canonical Allele Identifier: PA645404247
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406351
ClinVar RCV Id: RCV001385097
ClinVar Variation Id: 495566
ClinVar RCV Id: RCV000587588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys639Ser
CA16614529
NM_000138.5:c.1915T>A
CA392339043
NM_000138.5:c.1916G>C