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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:
PA2826407447
Gene: POLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
537100
ClinVar RCV Id:
RCV000645852
RCV001535618
RCV001584488
RCV003321704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243778.1:p.Pro208Leu
CA9595838
NM_001256849.1:c.623C>T