Canonical Allele Identifier: PA658670535
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000553941
ClinVar Variation:
458750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys982Tyr
CA360765270
NM_001999.4:c.2945G>A