ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825622270
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000118016
RCV000234341
RCV000515366
RCV000678829
RCV000778452
RCV001847713
RCV002243762
RCV002272131
RCV002316314
RCV003330442
ClinVar Variation:
129994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119603.1:p.Val1044Ala
CA231404
NM_001126131.2:c.3131T>C