ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645378744
Gene: UQCRC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003357.2:p.Arg254His
CA7953849
NM_003366.4:c.761G>A