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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:
PA2827903245
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489887
ClinVar RCV Id:
RCV000580248
RCV000705905
RCV001591345
RCV004001249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341555.1:p.Gln40Glu
CA72796179
NM_001354626.2:c.118C>G