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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:
PA2826937028
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1413429
ClinVar RCV Id:
RCV001925936
RCV004043395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295561.1:p.Pro206Leu
CA406973916
NM_001308632.1:c.617C>T