ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA2580385393
Gene: NDUFA13
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002671590
ClinVar Variation:
1950211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057049.5:p.Gln85Glu
CA306316368
NM_015965.7:c.253C>G