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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:
PA658671974
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
483721
ClinVar RCV Id:
RCV000570588
RCV002528138
RCV002265806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asp282Ala
CA346732826
NM_000251.3:c.845A>C