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