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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123141
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13496
ClinVar RCV Id:
RCV000014440
RCV000014441
RCV000014442
RCV000014443
RCV000188658
RCV000184011
RCV000347876
RCV000515354
RCV000508942
RCV001004604
RCV001198082
RCV001095683
RCV001376079
RCV001813983
RCV001731286
RCV002273931
RCV002316195
RCV001847600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Ala467Thr
CA123140
NM_002693.3:c.1399G>A