Canonical Allele Identifier: PA2825060387
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3047165
ClinVar RCV Id: RCV004006188 RCV004543908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2760Met
CA392319944
NM_000138.5:c.8279A>T