ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827893271
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233750
ClinVar RCV Id:
RCV000215690
RCV000461364
RCV002509323
RCV003469086
RCV003998572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341548.1:p.Ala348Val
CA10578263
NM_001354619.2:c.1043C>T