Canonical Allele Identifier: PA645464965
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373247
ClinVar RCV Id: RCV000412718 RCV000697612 RCV001591050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1893His
CA3394620
NM_001999.4:c.5678G>A