Canonical Allele Identifier: PA916038647
Gene: MLH1 HGNC NCBI
ClinVar RCV:
RCV000075223
ClinVar Variation:
89749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341559.1:p.Val49Glu
CA005522
NM_001354630.2:c.146T>A