Canonical Allele Identifier: PA2825057788
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2945414
ClinVar RCV Id: RCV003801068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser901Leu
CA392331673
NM_000138.5:c.2702C>T