ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827889815
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
89884
ClinVar RCV Id:
RCV000075360
RCV003451065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341546.1:p.Ala348Asp
CA006836
NM_001354617.2:c.1043C>A