ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464488
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263836
ClinVar RCV Id:
RCV002310859
RCV002518699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys175Arg
CA10587619
NM_001999.4:c.523T>C