Canonical Allele Identifier: PA645464675
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283152
ClinVar RCV Id: RCV000265983 RCV000557220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg695His
CA3395657
NM_001999.4:c.2084G>A