ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828482071
Gene: CHCHD5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2770800
ClinVar RCV:
RCV004349835
ClinVar Variation:
2600916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358252.1:p.Leu49Arg
CA1835592
NM_001371323.1:c.146T>G