ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093954
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000075753
RCV001854303
RCV003452745
ClinVar Variation:
90264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000240.1:p.Arg182Lys
CA010950
NM_000249.4:c.545G>A