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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:
PA1139691009
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
920280
ClinVar RCV Id:
RCV001178948
RCV001361175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Leu933Phe
CA346760985
NM_001281494.2:c.2797C>T