ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827912488
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341559.1:p.Ser647Thr
CA72813354
NM_001354630.2:c.1940G>C