Canonical Allele Identifier: PA1139677858
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925865
ClinVar RCV Id: RCV001188037 RCV002560004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2763Val
CA059892
NM_000138.5:c.8287A>G