ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321181
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213428
ClinVar RCV Id:
RCV000196760
RCV000469973
RCV002408866
RCV003401069
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Val2696Met
CA321180
NM_001999.4:c.8086G>A