ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827886130
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721277
ClinVar RCV Id:
RCV002294950
RCV002400439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341544.1:p.Ala348Ser
CA352064461
NM_001354615.2:c.1042G>T