Canonical Allele Identifier: PA2827903161
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219943
ClinVar RCV Id: RCV000206536 RCV000411042 RCV001009894 RCV001174565 RCV003997595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341555.1:p.Ser16Arg
CA027194
NM_001354626.2:c.48T>G
CA352052229
NM_001354626.2:c.46A>C
CA352052241
NM_001354626.2:c.48T>A