ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA186045
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_689598.2:p.Arg382Gln
CA186043
NM_152385.4:c.1145G>A