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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:
PA2825088159
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2609841
ClinVar RCV Id:
RCV003364334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Gly460Cys
CA346744970
NM_000179.3:c.1378G>T