ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347299
Gene: CHCHD10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998885.1:p.Pro80Leu
CA347297
NM_213720.3:c.239C>T