ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827898370
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2431569
ClinVar RCV Id:
RCV003140623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341551.1:p.Ala248Pro
CA352064458
NM_001354622.2:c.742G>C