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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:
PA2827114554
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745085
ClinVar RCV Id:
RCV002335777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg169Gly
CA366744220
NM_001322006.2:c.505C>G