ClinGen Allele Registry
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Canonical Allele Identifier:
PA916019165
Gene: CIB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499480
ClinVar RCV Id:
RCV000596997
RCV001195601
RCV001290343
RCV001328027
RCV002307557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288153.1:p.Arg191Trp
CA7680111
NM_001301224.2:c.571C>T