ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114551
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165453
RCV000481889
RCV000822639
RCV002492659
ClinVar Variation:
185940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Val168Met
CA012207
NM_001322006.2:c.502G>A