Canonical Allele Identifier: PA2825059072
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152235
ClinVar RCV Id: RCV003079192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1853Trp
CA392342519
NM_000138.5:c.5559T>G