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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:
PA2827885711
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186483
ClinVar RCV Id:
RCV000166085
RCV003593924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341544.1:p.Thr224Ala
CA005199
NM_001354615.2:c.670A>G