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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:
PA915966661
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801212
ClinVar RCV Id:
RCV000985816
RCV001180429
RCV001858630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser284Tyr
CA040934
NM_000251.3:c.851C>A