ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573198067
Gene: CHCHD10
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001999154
ClinVar Variation:
1495146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288268.1:p.Cys129Phe
CA410914442
NM_001301339.2:c.386G>T