ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827901481
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341553.1:p.Ser334Pro
CA008443
NM_001354624.2:c.1000T>C