ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580190961
Gene: CHCHD10
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002715840
ClinVar Variation:
1963379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288268.1:p.Ser127Phe
CA410914507
NM_001301339.2:c.380C>T