Canonical Allele Identifier: PA321898
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213287
ClinVar RCV Id: RCV000197430 RCV000206321 RCV002310785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg827Gln
CA321897
NM_001999.4:c.2480G>A