ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464425
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424261
ClinVar RCV Id:
RCV000480894
RCV002525965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg39Gly
CA16618113
NM_001999.4:c.115C>G