Canonical Allele Identifier: PA645406342
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316364
ClinVar RCV Id: RCV000290065 RCV000297567 RCV000313030 RCV000347326 RCV000382117 RCV000396029 RCV000400646 RCV000454621 RCV000766961 RCV001081111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2554Gln
CA058980
NM_000138.5:c.7661G>A