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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:
PA658668538
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486061
ClinVar RCV Id:
RCV000565011
RCV001785665
RCV000645847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002682.2:p.Arg444Gln
CA309601753
NM_002691.4:c.1331G>A