Canonical Allele Identifier: PA131223
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36104
ClinVar RCV Id: RCV000029766 RCV000035252 RCV000273547 RCV000310000 RCV000270709 RCV000659568 RCV000726908 RCV000769627 RCV001081774 RCV004532415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2234Met
CA016669
NM_000138.5:c.6700G>A