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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:
PA2827122414
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663106
ClinVar RCV Id:
RCV000820908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Gly276Ser
CA366742718
NM_001322008.2:c.826G>A