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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:
PA645447016
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407942
ClinVar RCV Id:
RCV000471804
RCV001566790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002682.2:p.Tyr104Phe
CA16616109
NM_002691.4:c.311A>T