Canonical Allele Identifier: PA2825059513
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2947881
ClinVar RCV Id: RCV003804511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2190Arg
CA392334899
NM_000138.5:c.6568T>C