Canonical Allele Identifier: PA2499228796
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073227
ClinVar RCV Id: RCV001386178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1420Arg
CA392317906
NM_000138.5:c.4258T>C