Allele Registry

Canonical Allele Identifier: PA316783

Gene: POLG HGNC NCBI

ClinVar RCV:

RCV000188626

RCV000758328

ClinVar Variation:

206569

HGVS (amino-acid)	Matching Registered Transcripts
NP_002684.1:p.Asp1172Glu	CA316782 NM_002693.3:c.3516C>G CA393747960 NM_002693.3:c.3516C>A