Canonical Allele Identifier: PA282173
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42305
ClinVar RCV Id: RCV000035139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys816Ser
CA013074
NM_000138.5:c.2447G>C
CA392334715
NM_000138.5:c.2446T>A