ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464722
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411821
ClinVar RCV Id:
RCV000476271
RCV001566251
RCV002429546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg906His
CA3395466
NM_001999.4:c.2717G>A