Canonical Allele Identifier: PA282239
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42377
ClinVar RCV Id: RCV000035218
ClinVar Variation Id: 519737
ClinVar RCV Id: RCV001382242 RCV002314332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys166Ser
CA015519
NM_000138.5:c.497G>C
CA392446313
NM_000138.5:c.496T>A