Canonical Allele Identifier: PA2825058205
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927084
ClinVar RCV Id: RCV003781274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1234Ser
CA392324313
NM_000138.5:c.3702A>T
CA392324314
NM_000138.5:c.3702A>C