Canonical Allele Identifier: PA322241
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213319
ClinVar RCV Id: RCV000726254 RCV001078545 RCV003323443 RCV003955183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg1237His
CA322240
NM_001999.4:c.3710G>A