ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827902550
Gene: MLH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341554.1:p.Ala250Val
CA030974
NM_001354625.2:c.749C>T