Canonical Allele Identifier: PA645406068
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406315
ClinVar RCV Id: RCV000470389 RCV004017626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2232Tyr
CA16614626
NM_000138.5:c.6695G>A