Canonical Allele Identifier: PA2573162940
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393600
ClinVar RCV Id: RCV001927184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys727Ser
CA392335880
NM_000138.5:c.2180G>C
CA392335887
NM_000138.5:c.2179T>A