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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:
PA913192107
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628706
ClinVar RCV Id:
RCV000773367
RCV001869094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Phe569Ser
CA346748546
NM_000179.3:c.1706T>C