ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830530685
Gene: CHCHD10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1495146
ClinVar RCV Id:
RCV001999154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998885.1:p.Cys122Phe
CA410914442
NM_213720.3:c.365G>T