Canonical Allele Identifier: PA658661127
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457240
ClinVar RCV Id: RCV000548249 RCV000769633 RCV002490964
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2017Arg
CA392338617
NM_000138.5:c.6049T>C