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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:
PA2827901580
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90076
ClinVar RCV Id:
RCV000162502
RCV000627729
RCV002288571
RCV003997124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341553.1:p.Val362Gly
CA008948
NM_001354624.2:c.1085T>G