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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:
PA2826635609
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219432
ClinVar RCV Id:
RCV000569723
RCV001351226
RCV001174913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Pro371Leu
CA348430
NM_001281494.2:c.1112C>T