Canonical Allele Identifier: PA913191858
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 633211
ClinVar RCV Id: RCV000781363 RCV001070500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2137Tyr
CA392336648
NM_000138.5:c.6410G>A