Canonical Allele Identifier: PA304064
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199995
ClinVar RCV Id: RCV000605926 RCV000631933 RCV000663528 RCV001255466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys769Tyr
CA012956
NM_000138.5:c.2306G>A