ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214828
Gene: CHCHD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000203222
RCV003556255
ClinVar Variation:
218883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057223.1:p.Arg145Gln
CA214827
NM_016139.4:c.434G>A