Canonical Allele Identifier: PA304070
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199999
ClinVar RCV Id: RCV000181463 RCV000663560 RCV001231222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys876Tyr
CA013240
NM_000138.5:c.2627G>A