ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA186044
Gene: CLHC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183280
ClinVar RCV Id:
RCV000162101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129070.1:p.Arg260Gln
CA186043
NM_001135598.2:c.779G>A