Canonical Allele Identifier: PA304092
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200010
ClinVar RCV Id: RCV000181475 RCV001178816 RCV003235102 RCV003996681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu1007Arg
CA013662
NM_000138.5:c.3020T>G