ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464980
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411813
ClinVar RCV Id:
RCV000457348
RCV002056714
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Val1952Ile
CA3394570
NM_001999.4:c.5854G>A