Canonical Allele Identifier: PA321405
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213293
ClinVar RCV Id: RCV000659608 RCV000705520 RCV001721271 RCV002433877 RCV003407699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg934Gln
CA321404
NM_001999.4:c.2801G>A