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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:
PA2827890895
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185023
ClinVar RCV Id:
RCV000164376
RCV000629834
RCV002271435
RCV003995338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341547.1:p.Lys120Glu
CA004298
NM_001354618.2:c.358A>G