ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826458225
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214903
RCV000462302
RCV000774707
RCV001264530
RCV003998618
ClinVar Variation:
234466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245200.1:p.Arg497Gln
CA029036
NM_001258271.2:c.1490G>A