Canonical Allele Identifier: PA645404619
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392364
ClinVar RCV Id: RCV000427671 RCV000693320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys982Ser
CA16606970
NM_000138.5:c.2945G>C
CA392329582
NM_000138.5:c.2944T>A