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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:
PA331237
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90560
ClinVar RCV Id:
RCV000236371
RCV000491838
RCV000627704
RCV000781559
RCV001030704
RCV003466962
RCV003997143
RCV004528275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly40Ser
CA017443
NM_000251.3:c.118G>A