Canonical Allele Identifier: PA645406513
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237107
ClinVar RCV Id: RCV000226999 RCV000664015 RCV001189718 RCV002286724 RCV003235151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2726Gln
CA059722
NM_000138.5:c.8177G>A