ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094787
Gene: UQCRQ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000765
RCV000437264
ClinVar Variation:
729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055217.2:p.Ser45Phe
CA114461
NM_014402.5:c.134C>T