ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580227129
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1779143
ClinVar RCV Id:
RCV002407474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341559.1:p.Ala353Asp
CA352052058
NM_001354630.2:c.1058C>A