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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:
PA2826458011
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1357640
ClinVar RCV Id:
RCV001903975
RCV004039623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245200.1:p.Leu432His
CA028127
NM_001258271.2:c.1295T>A