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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:
PA2827887321
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486868
ClinVar RCV Id:
RCV000566357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341545.1:p.Ala154Gly
CA352052509
NM_001354616.2:c.461C>G