Canonical Allele Identifier: PA2573162827
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677573
ClinVar RCV Id: RCV002224315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe602Leu
CA392340277
NM_000138.5:c.1806C>G
CA392340279
NM_000138.5:c.1806C>A
CA392340290
NM_000138.5:c.1804T>C