ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827133068
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164844
RCV000206128
RCV000433523
RCV000987833
RCV001358227
RCV002485018
ClinVar Variation:
185424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg236His
CA009478
NM_001322013.1:c.707G>A