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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:
PA658672705
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479814
ClinVar RCV Id:
RCV000569653
RCV001070187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu595Val
CA346728295
NM_000251.3:c.1783C>G