Canonical Allele Identifier: PA323175
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213305
ClinVar RCV Id: RCV000198639 RCV000364863 RCV002277524 RCV002310786 RCV003330566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1099His
CA323174
NM_001999.4:c.3296G>A