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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:
PA2827890885
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1485460
ClinVar RCV Id:
RCV002030410
RCV003303572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341547.1:p.Glu117Gln
CA352052080
NM_001354618.2:c.349G>C