Canonical Allele Identifier: PA295826
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179244
ClinVar RCV Id: RCV000156031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1197His
CA014329
NM_000138.5:c.3589G>C