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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:
PA2827909823
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628247
ClinVar RCV Id:
RCV000772592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341558.1:p.Met398Val
CA352053191
NM_001354629.2:c.1192A>G