Canonical Allele Identifier: PA645405624
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237099
ClinVar RCV Id: RCV001378305
ClinVar Variation Id: 549282
ClinVar RCV Id: RCV000663790 RCV000690179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1835Ser
CA10583242
NM_000138.5:c.5504G>C
CA392344113
NM_000138.5:c.5503T>A