Canonical Allele Identifier: PA645464818
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264140
ClinVar RCV Id: RCV001764238 RCV002311080 RCV001859459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1164Cys
CA10587614
NM_001999.4:c.3490C>T