ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812833
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519865
ClinVar RCV Id:
RCV002223886
RCV002313346
RCV003767805
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg1586Pro
CA3394863
NM_001999.4:c.4757G>C