ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670830
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458782
ClinVar RCV Id:
RCV000540491
RCV001764541
RCV004023794
RCV002497079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Tyr2744Asp
CA3393871
NM_001999.4:c.8230T>G