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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:
PA645474798
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246005
ClinVar RCV Id:
RCV000236195
RCV001178639
RCV001238758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly628Glu
CA10584218
NM_000251.3:c.1883G>A