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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:
PA2827893759
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820798
ClinVar RCV Id:
RCV001014593
RCV001860768
RCV004004534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001341548.1:p.Trp473Arg