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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:
PA2826464691
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332225
ClinVar RCV Id:
RCV001805271
RCV002542394
RCV004009115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Asn530Ile
CA346728301
NM_001258281.1:c.1589A>T