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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:
PA2826937035
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1752162
ClinVar RCV Id:
RCV002353845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295561.1:p.Ser207Ala
CA406973921
NM_001308632.1:c.619T>G