ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA163487
Gene: CHCHD10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140745
ClinVar RCV Id:
RCV000128857
RCV000192232
RCV001268565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288268.1:p.Ser59Leu
CA163486
NM_001301339.2:c.176C>T