ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123151
Gene: POLG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014459
RCV000014460
RCV000014461
RCV000080023
RCV000313739
RCV000507757
RCV000508846
RCV001198081
RCV002247336
RCV002313710
RCV003985719
ClinVar Variation:
13507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Trp748Ser
CA123150
NM_002693.3:c.2243G>C