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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:
PA2741867614
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2773579
ClinVar RCV Id:
RCV003584436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341557.1:p.Pro579Leu
CA352064167
NM_001354628.2:c.1736C>T