Canonical Allele Identifier: PA2827902550
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233120
ClinVar RCV Id: RCV000221100 RCV000474071 RCV000484604 RCV001824697 RCV003462512 RCV003998029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341554.1:p.Ala250Val
CA030974
NM_001354625.2:c.749C>T