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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:
PA645474796
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421375
ClinVar RCV Id:
RCV000478710
RCV003114607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly628Val
CA16617594
NM_000251.3:c.1883G>T