ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741863340
Gene: CHCHD6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307539.1:p.Tyr171Cys
CA2592766
NM_001320610.2:c.512A>G