Canonical Allele Identifier: PA915959764
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 640417
ClinVar RCV Id: RCV000793438
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1514Leu
CA053215
NM_000138.5:c.4541C>T