Canonical Allele Identifier: PA1139674882
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918685
ClinVar RCV Id: RCV001176415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1530Ser
CA392353179
NM_000138.5:c.4588C>A