ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827894377
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90390
ClinVar RCV Id:
RCV000075883
RCV001854310
RCV002444533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341549.1:p.Ala183Val
CA012571
NM_001354620.2:c.548C>T