Canonical Allele Identifier: PA658670431
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458736
ClinVar RCV Id: RCV000531266 RCV001575606 RCV002279337 RCV003488662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu578Asp
CA3395726
NM_001999.4:c.1734G>C
CA360742655
NM_001999.4:c.1734G>T