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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:
PA2826634560
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455128
ClinVar RCV Id:
RCV000538584
RCV000567668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Lys126Glu
CA067440
NM_001281494.2:c.376A>G