Canonical Allele Identifier: PA658800594
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000624915
ClinVar Variation:
520494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly899Glu
CA392331688
NM_000138.5:c.2696G>A