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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:
PA2827904520
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495766
ClinVar RCV Id:
RCV000588618
RCV001041464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341555.1:p.Cys398Gly
CA034051
NM_001354626.2:c.1192T>G