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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:
PA2826461198
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237309
ClinVar RCV Id:
RCV000580764
RCV001296983
RCV003987464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245203.1:p.Val119Phe
CA10582169
NM_001258274.3:c.355G>T