ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321629
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213375
ClinVar RCV Id:
RCV000197185
RCV002311056
RCV002515360
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg2833His
CA321628
NM_001999.4:c.8498G>A