Canonical Allele Identifier: PA658800902
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527165
ClinVar RCV Id: RCV000631944 RCV002477386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2320Gly
CA392330570
NM_000138.5:c.6959A>G