Canonical Allele Identifier: PA322767
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213370
ClinVar RCV Id: RCV000347766 RCV000755536 RCV002277531 RCV002315587 RCV002252049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ala2761Val
CA322766
NM_001999.4:c.8282C>T