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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:
PA2825192943
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785824
ClinVar RCV Id:
RCV002424136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Gln700Glu
CA366738002
NM_000535.7:c.2098C>G