ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250124
Gene: CIB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375453
ClinVar RCV Id:
RCV001902443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006375.2:p.Arg72Gln
CA7734259
NM_006384.4:c.215G>A