ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA049675
Gene: CHCHD10
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002285151
ClinVar Variation:
242618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998885.1:p.Gly58Arg
CA049364
NM_213720.3:c.172G>C