ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330766
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000240.1:p.Leu550dup
CA330764
NM_000249.4:c.1647_1649dup