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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:
PA2827897389
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237331
ClinVar RCV Id:
RCV000582817
RCV001365567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341550.1:p.Lys372Thr
CA10582184
NM_001354621.2:c.1115A>C