Canonical Allele Identifier: PA2499260016
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067400
ClinVar RCV Id: RCV001378653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys2041Tyr
CA360766345
NM_001999.4:c.6122G>A