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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:
PA2826635330
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629113
ClinVar RCV Id:
RCV000773802
RCV001299077
RCV004001330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Lys308Arg
CA346749514
NM_001281494.2:c.923A>G