ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196970
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187193
ClinVar RCV Id:
RCV000166895
RCV000483860
RCV001070317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000240.1:p.Asp748Asn
CA009185
NM_000249.4:c.2242G>A