Canonical Allele Identifier: PA2827910248
Gene: MLH1 HGNC NCBI
ClinVar RCV:
RCV000075299
ClinVar Variation:
89825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341558.1:p.Ser523Ile
CA006292
NM_001354629.2:c.1568G>T