Canonical Allele Identifier: PA2573163088
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1455712
ClinVar RCV Id: RCV001950796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1008Ser
CA392328998
NM_000138.5:c.3023G>C
CA392329002
NM_000138.5:c.3022T>A