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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:
PA2826465498
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332518
ClinVar RCV Id:
RCV001805564
RCV003759078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Ala723Thr
CA346730028
NM_001258281.1:c.2167G>A