Canonical Allele Identifier: PA658812949
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 528397
ClinVar RCV Id: RCV000633580 RCV000765796 RCV002448951 RCV003117441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Lys2815Thr
CA3393803
NM_001999.4:c.8444A>C