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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:
PA2826631081
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628500
ClinVar RCV Id:
RCV000772973
RCV000823422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268422.1:p.Pro371Ser
CA346750696
NM_001281493.2:c.1111C>T