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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:
PA2826634700
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230718
ClinVar RCV Id:
RCV000216959
RCV000800743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Pro160Thr
CA10578068
NM_001281494.2:c.478C>A