Canonical Allele Identifier: PA658693160
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495646
ClinVar RCV Id: RCV000589325 RCV002483564 RCV003767333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2501Leu
CA058702
NM_000138.5:c.7501G>C