Canonical Allele Identifier: PA645406017
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429425
ClinVar RCV Id: RCV000494127 RCV000722112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2181Arg
CA392335055
NM_000138.5:c.6541T>C