ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827895800
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341549.1:p.Ala583Val
CA008313
NM_001354620.2:c.1748C>T