Canonical Allele Identifier: PA2573163137
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325413
ClinVar RCV Id: RCV002246026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1197Gly
CA269527257
NM_000138.5:c.3590A>G