Canonical Allele Identifier: PA1139676262
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 988567
ClinVar RCV Id: RCV001269998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2015del
CA2175509176
NM_000138.5:c.6045_6047del