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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:
PA2827898346
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1779284
ClinVar RCV Id:
RCV002401483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341551.1:p.Leu241His
CA352064267
NM_001354622.2:c.722T>A