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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:
PA2580281130
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1940238
ClinVar RCV Id:
RCV002639241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002682.2:p.Pro208Ser
CA406973940
NM_002691.4:c.622C>T