ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418851
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000240.1:p.Gln407Ter
NM_000249.4:c.[1218del;1220A>T;1222C>A]
NM_000249.4:c.1219C>T