ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827901530
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786243
ClinVar RCV Id:
RCV002417620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341553.1:p.Ser349Phe
CA352068873
NM_001354624.2:c.1046C>T