ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827887969
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1779604
ClinVar RCV Id:
RCV002401680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341545.1:p.Leu347Phe
CA352064439
NM_001354616.2:c.1039C>T