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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:
PA2826457766
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230138
ClinVar RCV Id:
RCV000221003
RCV000688104
RCV003235139
RCV003997806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245200.1:p.Met359Thr
CA027081
NM_001258271.2:c.1076T>C