Canonical Allele Identifier: PA281858
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36123
ClinVar RCV Id: RCV000029785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2633Ser
CA017457
NM_000138.5:c.7898G>C
CA392323237
NM_000138.5:c.7897T>A