Canonical Allele Identifier: PA319913
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213318
ClinVar RCV Id: RCV000488072 RCV001195960 RCV001857717 RCV002354546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1237Cys
CA319912
NM_001999.4:c.3709C>T