ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827906447
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1523598
ClinVar RCV Id:
RCV002038998
RCV003453982
RCV003585193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341557.1:p.Tyr130His
CA010195
NM_001354628.2:c.388T>C