ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670684
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487469
ClinVar RCV Id:
RCV000576804
RCV001551500
RCV002483546
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg1832Cys
CA3394684
NM_001999.4:c.5494C>T