Allele Registry

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Canonical Allele Identifier: PA1139674821

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928275

ClinVar RCV Id: RCV001192050 RCV004010567

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1516Glu	CA392353435 NM_000138.5:c.4548T>G CA392353437 NM_000138.5:c.4548T>A