ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278759
Gene: CHCHD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218882
ClinVar RCV Id:
RCV000203229
RCV003556254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057223.1:p.Thr61Ile
CA278758
NM_016139.4:c.182C>T