ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101691
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213313
ClinVar RCV Id:
RCV000197367
RCV002336530
RCV003525874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys1198Tyr
CA321818
NM_001999.4:c.3593G>A