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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:
PA2826457242
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220367
ClinVar RCV Id:
RCV000206820
RCV000478892
RCV000566399
RCV001357243
RCV002494528
RCV003468950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245200.1:p.Arg217His
CA037481
NM_001258271.2:c.650G>A