Canonical Allele Identifier: PA658690345
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495558
ClinVar RCV Id: RCV000587875 RCV001045370
ClinVar Variation Id: 1458827
ClinVar RCV Id: RCV001975073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly544Arg
CA392341227
NM_000138.5:c.1630G>C
CA392341228
NM_000138.5:c.1630G>A