Canonical Allele Identifier: PA658812769
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519808
ClinVar RCV Id: RCV001345957 RCV001770551 RCV002313289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1307Cys
CA127008422
NM_001999.4:c.3919C>T