Canonical Allele Identifier: PA2825059235
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1750458
ClinVar RCV Id: RCV002355762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1971Phe
CA392339929
NM_000138.5:c.5912G>T