ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670672
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449742
ClinVar RCV Id:
RCV000518903
RCV002314909
RCV001306832
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg1575His
CA3394865
NM_001999.4:c.4724G>A