ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321324
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213333
ClinVar RCV Id:
RCV000196903
RCV000249340
RCV001853146
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg1586Gln
CA321323
NM_001999.4:c.4757G>A