ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827888604
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000206724
ClinVar Variation:
219292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341545.1:p.Arg514Gly
CA350722
NM_001354616.2:c.1540A>G