ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830071132
Gene: CHCHD6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115719.1:p.Leu55Phe
CA354418893
NM_032343.3:c.163C>T