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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:
PA2827909064
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1405112
ClinVar RCV Id:
RCV001903571
RCV004010834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341558.1:p.Ser185Cys
CA352042762
NM_001354629.2:c.554C>G